Canonical Allele Identifier: CA2379129

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1157818
• ClinVar RCV Id: RCV001500996 ; RCV002563334
• dbSNP Id: rs139920321
• ExAC: 3:48612511 G / T
• gnomAD v2: 3-48612511-G-T
• gnomAD v3: 3-48575078-G-T
• gnomAD v4: 3-48575078-G-T
• MyVariant Identifiers: chr3:g.48612511G>T (hg19) ; chr3:g.48575078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575078G>T , CM000665.2:g.48575078G>T	GRCh38
NC_000003.11:g.48612511G>T , CM000665.1:g.48612511G>T	GRCh37
NC_000003.10:g.48587515G>T	NCBI36
NG_007065.1:g.25175C>A , LRG_286:g.25175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6265C>A MANE Select	ENSP00000506558.1:p.Pro2089Thr
ENST00000328333.12:c.6265C>A	ENSP00000332371.8:p.Pro2089Thr
ENST00000487017.5:n.2182C>A
NM_000094.3:c.6265C>A , LRG_286t1:c.6265C>A	NP_000085.1:p.Pro2089Thr
XM_011533336.1:c.6292C>A	XP_011531638.1:p.Pro2098Thr
XM_011533337.1:c.6265C>A	XP_011531639.1:p.Pro2089Thr
XM_011533338.1:c.6292C>A	XP_011531640.1:p.Pro2098Thr
XM_011533339.1:c.6292C>A	XP_011531641.1:p.Pro2098Thr
XM_011533340.1:c.6292C>A	XP_011531642.1:p.Pro2098Thr
XM_011533341.1:c.6292C>A	XP_011531643.1:p.Pro2098Thr
XM_011533342.1:c.6292C>A	XP_011531644.1:p.Pro2098Thr
XR_940369.1:n.6328C>A
XR_940370.1:n.6328C>A
XR_940371.1:n.6328C>A
XR_940372.1:n.6328C>A
XR_940373.1:n.6328C>A
XR_940374.1:n.6328C>A
XR_940375.1:n.6266C>A
XM_017005688.1:c.6265C>A	XP_016861177.1:p.Pro2089Thr
XM_017005689.1:c.6265C>A	XP_016861178.1:p.Pro2089Thr
XM_017005690.1:c.6265C>A	XP_016861179.1:p.Pro2089Thr
XM_017005691.1:c.6265C>A	XP_016861180.1:p.Pro2089Thr
XM_017005692.1:c.6265C>A	XP_016861181.1:p.Pro2089Thr
XR_001740003.1:n.6301C>A
XR_001740004.1:n.6301C>A
XR_001740005.1:n.6301C>A
XR_001740006.1:n.6301C>A
XR_001740007.1:n.6301C>A
XR_001740008.1:n.6301C>A
XR_001740009.1:n.6239C>A
NM_000094.4:c.6265C>A MANE Select	NP_000085.1:p.Pro2089Thr