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Symbol report for CACNA1F

Stable symbol

HGNC data for CACNA1F

Approved symbol
CACNA1F
Approved name

calcium voltage-gated channel subunit alpha1 F

Locus type
gene with protein product
HGNC ID
HGNC:1393
Symbol status
Approved
Previous symbols
CSNB2
AIED
Previous names
Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)
calcium channel, voltage-dependent, L type, alpha 1F subunit
Alias symbols
Cav1.4
JM8
JMC8
CSNBX2
CORDX3
CSNB2A
OA2
Chromosomal location
Xp11.23
Gene groups
Gene resources for CACNA1F
Ensembl
ENSG00000102001 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
778 Curated
UCSC
uc004dnb.3
Alliance of Genome Resources
HGNC:1393
Nucleotide resources for CACNA1F
MANE Select
NM_001256789.3
ENST00000323022.10
INSDC
AA019975 Curated
ENAGenBankDDBJ
RefSeq
NM_005183 Curated
NCBI sequence viewer
CCDS
CCDS35253 Curated
CCDS59166 Curated
CCDS59167 Curated
Protein resources for CACNA1F
UniProt/Swiss-Prot
O60840
InterProPDBeReactome
AlphaFold
AF-O60840-F1
Orthologs from selected species for CACNA1F
Bos taurus
CACNA1F VGNC:26676 VGNC
Canis familiaris
CACNA1F VGNC:38636 VGNC
Equus caballus
CACNA1F VGNC:15985 VGNC
Felis catus
CACNA1F VGNC:60297 VGNC
Macaca mulatta
CACNA1F VGNC:70503 VGNC
Mus musculus
Cacna1f MGI:1859639 Curated
Pan troglodytes
CACNA1F VGNC:55705 VGNC
Rattus norvegicus
Cacna1f RGD:621535
Sus scrofa
CACNA1F VGNC:111741 VGNC
Specialist resources for CACNA1F
IUPHAR/BPS Guide to PHARMACOLOGY
531
Clinical resources for CACNA1F
OMIM
300110
LSDB
Mutations of the L-type Calcium-Channel Gene Curated
Global Variome shared LOVD Curated
GenCC
HGNC:1393
MedlinePlus
Search via CACNA1F
DECIPHER
Search via CACNA1F
ClinGen
Search via HGNC:1393
Genetic Testing Registry
Search via NCBI Gene ID 778
ClinVar
Search via NCBI Gene ID 778
dbVar
Search via NCBI Gene ID 778
Orphanet
119148
Other resources for CACNA1F
AmiGO
Search via O60840
QuickGO
Search via O60840
BioGPS
Search via NCBI Gene ID 778
GeneCards
Search via HGNC:1393
Monarch
Search via HGNC:1393
WikiGenes
Search via NCBI Gene ID 778
References for CACNA1F