Canonical Allele Identifier: CA352642021

Gene: COL7A1

Linked Data

• dbSNP Id: rs1354335653
• gnomAD v2: 3-48605587-T-A
• gnomAD v4: 3-48568154-T-A
• MyVariant Identifiers: chr3:g.48605587T>A (hg19) ; chr3:g.48568154T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568154T>A , CM000665.2:g.48568154T>A	GRCh38
NC_000003.11:g.48605587T>A , CM000665.1:g.48605587T>A	GRCh37
NC_000003.10:g.48580591T>A	NCBI36
NG_007065.1:g.32099A>T , LRG_286:g.32099A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7811A>T MANE Select	ENSP00000506558.1:p.Asp2604Val
ENST00000328333.12:c.7811A>T	ENSP00000332371.8:p.Asp2604Val
ENST00000459756.5:n.634A>T
ENST00000487017.5:n.4450A>T
NM_000094.3:c.7811A>T , LRG_286t1:c.7811A>T	NP_000085.1:p.Asp2604Val
XM_011533336.1:c.7838A>T	XP_011531638.1:p.Asp2613Val
XM_011533337.1:c.7811A>T	XP_011531639.1:p.Asp2604Val
XM_011533338.1:c.7778A>T	XP_011531640.1:p.Asp2593Val
XM_011533339.1:c.*43A>T	XP_011531641.1:n.*43A>T
XR_940369.1:n.7874A>T
XR_940370.1:n.7874A>T
XR_940371.1:n.7874A>T
XR_940372.1:n.7848A>T
XM_017005688.1:c.7751A>T	XP_016861177.1:p.Asp2584Val
XM_017005689.1:c.*43A>T	XP_016861178.1:n.*43A>T
XR_001740003.1:n.7847A>T
XR_001740004.1:n.7847A>T
XR_001740005.1:n.7847A>T
XR_001740006.1:n.7821A>T
NM_000094.4:c.7811A>T MANE Select	NP_000085.1:p.Asp2604Val