Canonical Allele Identifier: CA352643055

Gene: COL7A1

Linked Data

• dbSNP Id: rs1241915553
• gnomAD v2: 3-48606251-C-T
• gnomAD v4: 3-48568818-C-T
• MyVariant Identifiers: chr3:g.48606251C>T (hg19) ; chr3:g.48568818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568818C>T , CM000665.2:g.48568818C>T	GRCh38
NC_000003.11:g.48606251C>T , CM000665.1:g.48606251C>T	GRCh37
NC_000003.10:g.48581255C>T	NCBI36
NG_007065.1:g.31435G>A , LRG_286:g.31435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7724G>A MANE Select	ENSP00000506558.1:p.Gly2575Glu
ENST00000328333.12:c.7724G>A	ENSP00000332371.8:p.Gly2575Glu
ENST00000459756.5:n.547G>A
ENST00000467985.1:n.570G>A
ENST00000487017.5:n.4363G>A
NM_000094.3:c.7724G>A , LRG_286t1:c.7724G>A	NP_000085.1:p.Gly2575Glu
XM_011533336.1:c.7751G>A	XP_011531638.1:p.Gly2584Glu
XM_011533337.1:c.7724G>A	XP_011531639.1:p.Gly2575Glu
XM_011533338.1:c.7691G>A	XP_011531640.1:p.Gly2564Glu
XM_011533339.1:c.7751G>A	XP_011531641.1:p.Gly2584Glu
XR_940369.1:n.7787G>A
XR_940370.1:n.7787G>A
XR_940371.1:n.7787G>A
XR_940372.1:n.7761G>A
XM_017005688.1:c.7664G>A	XP_016861177.1:p.Gly2555Glu
XM_017005689.1:c.7724G>A	XP_016861178.1:p.Gly2575Glu
XR_001740003.1:n.7760G>A
XR_001740004.1:n.7760G>A
XR_001740005.1:n.7760G>A
XR_001740006.1:n.7734G>A
NM_000094.4:c.7724G>A MANE Select	NP_000085.1:p.Gly2575Glu