Canonical Allele Identifier: CA352642805

Gene: COL7A1

Linked Data

• dbSNP Id: rs868609364
• gnomAD v2: 3-48606221-G-A
• gnomAD v4: 3-48568788-G-A
• MyVariant Identifiers: chr3:g.48606221G>A (hg19) ; chr3:g.48568788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568788G>A , CM000665.2:g.48568788G>A	GRCh38
NC_000003.11:g.48606221G>A , CM000665.1:g.48606221G>A	GRCh37
NC_000003.10:g.48581225G>A	NCBI36
NG_007065.1:g.31465C>T , LRG_286:g.31465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7754C>T MANE Select	ENSP00000506558.1:p.Pro2585Leu
ENST00000328333.12:c.7754C>T	ENSP00000332371.8:p.Pro2585Leu
ENST00000459756.5:n.577C>T
ENST00000467985.1:n.600C>T
ENST00000487017.5:n.4393C>T
NM_000094.3:c.7754C>T , LRG_286t1:c.7754C>T	NP_000085.1:p.Pro2585Leu
XM_011533336.1:c.7781C>T	XP_011531638.1:p.Pro2594Leu
XM_011533337.1:c.7754C>T	XP_011531639.1:p.Pro2585Leu
XM_011533338.1:c.7721C>T	XP_011531640.1:p.Pro2574Leu
XM_011533339.1:c.7781C>T	XP_011531641.1:p.Pro2594Leu
XR_940369.1:n.7817C>T
XR_940370.1:n.7817C>T
XR_940371.1:n.7817C>T
XR_940372.1:n.7791C>T
XM_017005688.1:c.7694C>T	XP_016861177.1:p.Pro2565Leu
XM_017005689.1:c.7754C>T	XP_016861178.1:p.Pro2585Leu
XR_001740003.1:n.7790C>T
XR_001740004.1:n.7790C>T
XR_001740005.1:n.7790C>T
XR_001740006.1:n.7764C>T
NM_000094.4:c.7754C>T MANE Select	NP_000085.1:p.Pro2585Leu