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Symbol report for COL7A1

Stable symbol

HGNC data for COL7A1

Approved symbol
COL7A1
Approved name

collagen type VII alpha 1 chain

Locus type
gene with protein product
HGNC ID
HGNC:2214
Symbol status
Approved
Previous symbols
EBDCT
EBD1
EBR1
Previous names
epidermolysis bullosa, dystrophic, dominant and recessive
collagen, type VII, alpha 1
Alias names
collagen VII, alpha-1 polypeptide
LC collagen
Chromosomal location
3p21.31
Gene groups
Gene resources for COL7A1
Ensembl
ENSG00000114270 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
1294 Curated
UCSC
uc003ctz.3
Alliance of Genome Resources
HGNC:2214
Nucleotide resources for COL7A1
MANE Select
NM_000094.4
ENST00000681320.1
INSDC
L02870 Curated
ENAGenBankDDBJ
RefSeq
NM_000094 Curated
NCBI sequence viewer
CCDS
CCDS2773 Curated
Protein resources for COL7A1
UniProt/Swiss-Prot
Q02388
InterProPDBeReactome
Orthologs from selected species for COL7A1
Bos taurus
COL7A1 VGNC:27573 VGNC
Canis familiaris
COL7A1 VGNC:39483 VGNC
Mus musculus
Col7a1 MGI:88462 Curated
Rattus norvegicus
Col7a1 RGD:1311417
Sus scrofa
COL7A1 VGNC:108645 VGNC
Specialist resources for COL7A1
MEROPS
I02.967
Clinical resources for COL7A1
OMIM
120120
LRG
LRG_286 Curated
GenCC
HGNC:2214
MedlinePlus
Search via COL7A1
DECIPHER
Search via COL7A1
ClinGen
Search via HGNC:2214
Genetic Testing Registry
Search via NCBI Gene ID 1294
ClinVar
Search via NCBI Gene ID 1294
dbVar
Search via NCBI Gene ID 1294
Orphanet
120738
Other resources for COL7A1
AmiGO
Search via Q02388
QuickGO
Search via Q02388
BioGPS
Search via NCBI Gene ID 1294
GeneCards
Search via HGNC:2214
Monarch
Search via HGNC:2214
WikiGenes
Search via NCBI Gene ID 1294
References for COL7A1