Canonical Allele Identifier: CA73973102

Gene: COL7A1

Linked Data

• dbSNP Id: rs550293860
• gnomAD v4: 3-48567738-G-C
• MyVariant Identifiers: chr3:g.48605171G>C (hg19) ; chr3:g.48567738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567738G>C , CM000665.2:g.48567738G>C	GRCh38
NC_000003.11:g.48605171G>C , CM000665.1:g.48605171G>C	GRCh37
NC_000003.10:g.48580175G>C	NCBI36
NG_007065.1:g.32515C>G , LRG_286:g.32515C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7955C>G MANE Select	ENSP00000506558.1:p.Pro2652Arg
ENST00000328333.12:c.7955C>G	ENSP00000332371.8:p.Pro2652Arg
ENST00000459756.5:n.778C>G
ENST00000487017.5:n.4594C>G
NM_000094.3:c.7955C>G , LRG_286t1:c.7955C>G	NP_000085.1:p.Pro2652Arg
XM_011533336.1:c.7982C>G	XP_011531638.1:p.Pro2661Arg
XM_011533337.1:c.7955C>G	XP_011531639.1:p.Pro2652Arg
XM_011533338.1:c.7922C>G	XP_011531640.1:p.Pro2641Arg
XR_940369.1:n.8018C>G
XR_940370.1:n.8018C>G
XR_940371.1:n.8018C>G
XM_017005688.1:c.7895C>G	XP_016861177.1:p.Pro2632Arg
XR_001740003.1:n.7991C>G
XR_001740004.1:n.7991C>G
XR_001740005.1:n.7991C>G
NM_000094.4:c.7955C>G MANE Select	NP_000085.1:p.Pro2652Arg