Canonical Allele Identifier: CA352646508

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043827273
• gnomAD v3: 3-48570322-C-T
• gnomAD v4: 3-48570322-C-T
• MyVariant Identifiers: chr3:g.48607755C>T (hg19) ; chr3:g.48570322C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570322C>T , CM000665.2:g.48570322C>T	GRCh38
NC_000003.11:g.48607755C>T , CM000665.1:g.48607755C>T	GRCh37
NC_000003.10:g.48582759C>T	NCBI36
NG_007065.1:g.29931G>A , LRG_286:g.29931G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7393G>A MANE Select	ENSP00000506558.1:p.Val2465Ile
ENST00000328333.12:c.7393G>A	ENSP00000332371.8:p.Val2465Ile
ENST00000422991.1:c.388G>A	ENSP00000391608.1:p.Val130Ile
ENST00000459756.5:n.120G>A
ENST00000467985.1:n.143G>A
ENST00000487017.5:n.4032G>A
NM_000094.3:c.7393G>A , LRG_286t1:c.7393G>A	NP_000085.1:p.Val2465Ile
XM_011533336.1:c.7420G>A	XP_011531638.1:p.Val2474Ile
XM_011533337.1:c.7393G>A	XP_011531639.1:p.Val2465Ile
XM_011533338.1:c.7408-144G>A	XP_011531640.1:n.7408-144G>A
XM_011533339.1:c.7420G>A	XP_011531641.1:p.Val2474Ile
XM_011533340.1:c.7408-70G>A	XP_011531642.1:n.7408-70G>A
XM_011533341.1:c.7382-70G>A	XP_011531643.1:n.7382-70G>A
XM_011533342.1:c.7382-144G>A	XP_011531644.1:n.7382-144G>A
XR_940369.1:n.7456G>A
XR_940370.1:n.7456G>A
XR_940371.1:n.7456G>A
XR_940372.1:n.7430G>A
XM_017005688.1:c.7381-144G>A	XP_016861177.1:n.7381-144G>A
XM_017005689.1:c.7393G>A	XP_016861178.1:p.Val2465Ile
XM_017005690.1:c.7381-70G>A	XP_016861179.1:n.7381-70G>A
XM_017005691.1:c.7355-70G>A	XP_016861180.1:n.7355-70G>A
XM_017005692.1:c.7355-144G>A	XP_016861181.1:n.7355-144G>A
XR_001740003.1:n.7429G>A
XR_001740004.1:n.7429G>A
XR_001740005.1:n.7429G>A
XR_001740006.1:n.7403G>A
NM_000094.4:c.7393G>A MANE Select	NP_000085.1:p.Val2465Ile