Canonical Allele Identifier: CA352642183

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568509-G-C
• MyVariant Identifiers: chr3:g.48605942G>C (hg19) ; chr3:g.48568509G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568509G>C , CM000665.2:g.48568509G>C	GRCh38
NC_000003.11:g.48605942G>C , CM000665.1:g.48605942G>C	GRCh37
NC_000003.10:g.48580946G>C	NCBI36
NG_007065.1:g.31744C>G , LRG_286:g.31744C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7784C>G MANE Select	ENSP00000506558.1:p.Pro2595Arg
ENST00000328333.12:c.7784C>G	ENSP00000332371.8:p.Pro2595Arg
ENST00000459756.5:n.607C>G
ENST00000467985.1:n.630C>G
ENST00000487017.5:n.4423C>G
NM_000094.3:c.7784C>G , LRG_286t1:c.7784C>G	NP_000085.1:p.Pro2595Arg
XM_011533336.1:c.7811C>G	XP_011531638.1:p.Pro2604Arg
XM_011533337.1:c.7784C>G	XP_011531639.1:p.Pro2595Arg
XM_011533338.1:c.7751C>G	XP_011531640.1:p.Pro2584Arg
XM_011533339.1:c.7811C>G	XP_011531641.1:p.Pro2604Arg
XR_940369.1:n.7847C>G
XR_940370.1:n.7847C>G
XR_940371.1:n.7847C>G
XR_940372.1:n.7821C>G
XM_017005688.1:c.7724C>G	XP_016861177.1:p.Pro2575Arg
XM_017005689.1:c.7784C>G	XP_016861178.1:p.Pro2595Arg
XR_001740003.1:n.7820C>G
XR_001740004.1:n.7820C>G
XR_001740005.1:n.7820C>G
XR_001740006.1:n.7794C>G
NM_000094.4:c.7784C>G MANE Select	NP_000085.1:p.Pro2595Arg