Canonical Allele Identifier: CA352636227

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48603714A>C (hg19) ; chr3:g.48566281A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566281A>C , CM000665.2:g.48566281A>C	GRCh38
NC_000003.11:g.48603714A>C , CM000665.1:g.48603714A>C	GRCh37
NC_000003.10:g.48578718A>C	NCBI36
NG_007065.1:g.33972T>G , LRG_286:g.33972T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8393T>G MANE Select	ENSP00000506558.1:p.Met2798Arg
ENST00000328333.12:c.8393T>G	ENSP00000332371.8:p.Met2798Arg
ENST00000487017.5:n.5032T>G
NM_000094.3:c.8393T>G , LRG_286t1:c.8393T>G	NP_000085.1:p.Met2798Arg
XM_011533336.1:c.8420T>G	XP_011531638.1:p.Met2807Arg
XM_011533337.1:c.8393T>G	XP_011531639.1:p.Met2798Arg
XM_011533338.1:c.8360T>G	XP_011531640.1:p.Met2787Arg
XR_940369.1:n.8456T>G
XR_940370.1:n.8456T>G
XR_940371.1:n.8456T>G
XM_017005688.1:c.8333T>G	XP_016861177.1:p.Met2778Arg
XR_001740003.1:n.8429T>G
XR_001740004.1:n.8429T>G
XR_001740005.1:n.8429T>G
NM_000094.4:c.8393T>G MANE Select	NP_000085.1:p.Met2798Arg