Canonical Allele Identifier: CA352643026

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2867227
• ClinVar RCV Id: RCV003700623
• gnomAD v4: 3-48568814-C-A
• MyVariant Identifiers: chr3:g.48606247C>A (hg19) ; chr3:g.48568814C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568814C>A , CM000665.2:g.48568814C>A	GRCh38
NC_000003.11:g.48606247C>A , CM000665.1:g.48606247C>A	GRCh37
NC_000003.10:g.48581251C>A	NCBI36
NG_007065.1:g.31439G>T , LRG_286:g.31439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7728G>T MANE Select	ENSP00000506558.1:p.Leu2576Phe
ENST00000328333.12:c.7728G>T	ENSP00000332371.8:p.Leu2576Phe
ENST00000459756.5:n.551G>T
ENST00000467985.1:n.574G>T
ENST00000487017.5:n.4367G>T
NM_000094.3:c.7728G>T , LRG_286t1:c.7728G>T	NP_000085.1:p.Leu2576Phe
XM_011533336.1:c.7755G>T	XP_011531638.1:p.Leu2585Phe
XM_011533337.1:c.7728G>T	XP_011531639.1:p.Leu2576Phe
XM_011533338.1:c.7695G>T	XP_011531640.1:p.Leu2565Phe
XM_011533339.1:c.7755G>T	XP_011531641.1:p.Leu2585Phe
XR_940369.1:n.7791G>T
XR_940370.1:n.7791G>T
XR_940371.1:n.7791G>T
XR_940372.1:n.7765G>T
XM_017005688.1:c.7668G>T	XP_016861177.1:p.Leu2556Phe
XM_017005689.1:c.7728G>T	XP_016861178.1:p.Leu2576Phe
XR_001740003.1:n.7764G>T
XR_001740004.1:n.7764G>T
XR_001740005.1:n.7764G>T
XR_001740006.1:n.7738G>T
NM_000094.4:c.7728G>T MANE Select	NP_000085.1:p.Leu2576Phe