Canonical Allele Identifier: CA10588367

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 265077
• ClinVar RCV Id: RCV000254743 ; RCV003989510
• dbSNP Id: rs886039328
• gnomAD v4: 3-48570177-C-T
• MyVariant Identifiers: chr3:g.48607610C>T (hg19) ; chr3:g.48570177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570177C>T , CM000665.2:g.48570177C>T	GRCh38
NC_000003.11:g.48607610C>T , CM000665.1:g.48607610C>T	GRCh37
NC_000003.10:g.48582614C>T	NCBI36
NG_007065.1:g.30076G>A , LRG_286:g.30076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7442G>A MANE Select	ENSP00000506558.1:p.Gly2481Asp
ENST00000328333.12:c.7442G>A	ENSP00000332371.8:p.Gly2481Asp
ENST00000422991.1:c.437G>A	ENSP00000391608.1:p.Gly146Asp
ENST00000459756.5:n.265G>A
ENST00000467985.1:n.288G>A
ENST00000487017.5:n.4081G>A
NM_000094.3:c.7442G>A , LRG_286t1:c.7442G>A	NP_000085.1:p.Gly2481Asp
XM_011533336.1:c.7469G>A	XP_011531638.1:p.Gly2490Asp
XM_011533337.1:c.7442G>A	XP_011531639.1:p.Gly2481Asp
XM_011533338.1:c.7409G>A	XP_011531640.1:p.Gly2470Asp
XM_011533339.1:c.7469G>A	XP_011531641.1:p.Gly2490Asp
XM_011533340.1:c.*43G>A	XP_011531642.1:n.*43G>A
XM_011533341.1:c.*29G>A	XP_011531643.1:n.*29G>A
XM_011533342.1:c.7383G>A	XP_011531644.1:p.Gly2461=
XR_940369.1:n.7505G>A
XR_940370.1:n.7505G>A
XR_940371.1:n.7505G>A
XR_940372.1:n.7479G>A
XM_017005688.1:c.7382G>A	XP_016861177.1:p.Gly2461Asp
XM_017005689.1:c.7442G>A	XP_016861178.1:p.Gly2481Asp
XM_017005690.1:c.*43G>A	XP_016861179.1:n.*43G>A
XM_017005691.1:c.*29G>A	XP_016861180.1:n.*29G>A
XM_017005692.1:c.7356G>A	XP_016861181.1:p.Gly2452=
XR_001740003.1:n.7478G>A
XR_001740004.1:n.7478G>A
XR_001740005.1:n.7478G>A
XR_001740006.1:n.7452G>A
NM_000094.4:c.7442G>A MANE Select	NP_000085.1:p.Gly2481Asp