Canonical Allele Identifier: CA2378489

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1048050
• ClinVar RCV Id: RCV002276706 ; RCV003331128 ; RCV003558822
• dbSNP Id: rs765529435
• ExAC: 3:48607578 G / A
• gnomAD v2: 3-48607578-G-A
• gnomAD v4: 3-48570145-G-A
• MyVariant Identifiers: chr3:g.48607578G>A (hg19) ; chr3:g.48570145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570145G>A , CM000665.2:g.48570145G>A	GRCh38
NC_000003.11:g.48607578G>A , CM000665.1:g.48607578G>A	GRCh37
NC_000003.10:g.48582582G>A	NCBI36
NG_007065.1:g.30108C>T , LRG_286:g.30108C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7474C>T MANE Select	ENSP00000506558.1:p.Arg2492Ter
ENST00000328333.12:c.7474C>T	ENSP00000332371.8:p.Arg2492Ter
ENST00000422991.1:c.469C>T	ENSP00000391608.1:p.Arg157Ter
ENST00000459756.5:n.297C>T
ENST00000467985.1:n.320C>T
ENST00000487017.5:n.4113C>T
NM_000094.3:c.7474C>T , LRG_286t1:c.7474C>T	NP_000085.1:p.Arg2492Ter
XM_011533336.1:c.7501C>T	XP_011531638.1:p.Arg2501Ter
XM_011533337.1:c.7474C>T	XP_011531639.1:p.Arg2492Ter
XM_011533338.1:c.7441C>T	XP_011531640.1:p.Arg2481Ter
XM_011533339.1:c.7501C>T	XP_011531641.1:p.Arg2501Ter
XM_011533342.1:c.*29C>T	XP_011531644.1:n.*29C>T
XR_940369.1:n.7537C>T
XR_940370.1:n.7537C>T
XR_940371.1:n.7537C>T
XR_940372.1:n.7511C>T
XM_017005688.1:c.7414C>T	XP_016861177.1:p.Arg2472Ter
XM_017005689.1:c.7474C>T	XP_016861178.1:p.Arg2492Ter
XM_017005692.1:c.*29C>T	XP_016861181.1:n.*29C>T
XR_001740003.1:n.7510C>T
XR_001740004.1:n.7510C>T
XR_001740005.1:n.7510C>T
XR_001740006.1:n.7484C>T
NM_000094.4:c.7474C>T MANE Select	NP_000085.1:p.Arg2492Ter