Canonical Allele Identifier: CA73973465

Gene: COL7A1

Linked Data

• dbSNP Id: rs865947392
• gnomAD v3: 3-48568857-T-C
• gnomAD v4: 3-48568857-T-C
• MyVariant Identifiers: chr3:g.48606290T>C (hg19) ; chr3:g.48568857T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568857T>C , CM000665.2:g.48568857T>C	GRCh38
NC_000003.11:g.48606290T>C , CM000665.1:g.48606290T>C	GRCh37
NC_000003.10:g.48581294T>C	NCBI36
NG_007065.1:g.31396A>G , LRG_286:g.31396A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7687-2A>G MANE Select	ENSP00000506558.1:n.7687-2A>G
ENST00000328333.12:c.7687-2A>G	ENSP00000332371.8:n.7687-2A>G
ENST00000459756.5:n.510-2A>G
ENST00000467985.1:n.533-2A>G
ENST00000487017.5:n.4326-2A>G
NM_000094.3:c.7687-2A>G , LRG_286t1:c.7687-2A>G	NP_000085.1:n.7687-2A>G
XM_011533336.1:c.7714-2A>G	XP_011531638.1:n.7714-2A>G
XM_011533337.1:c.7687-2A>G	XP_011531639.1:n.7687-2A>G
XM_011533338.1:c.7654-2A>G	XP_011531640.1:n.7654-2A>G
XM_011533339.1:c.7714-2A>G	XP_011531641.1:n.7714-2A>G
XR_940369.1:n.7750-2A>G
XR_940370.1:n.7750-2A>G
XR_940371.1:n.7750-2A>G
XR_940372.1:n.7724-2A>G
XM_017005688.1:c.7627-2A>G	XP_016861177.1:n.7627-2A>G
XM_017005689.1:c.7687-2A>G	XP_016861178.1:n.7687-2A>G
XR_001740003.1:n.7723-2A>G
XR_001740004.1:n.7723-2A>G
XR_001740005.1:n.7723-2A>G
XR_001740006.1:n.7697-2A>G
NM_000094.4:c.7687-2A>G MANE Select	NP_000085.1:n.7687-2A>G