Canonical Allele Identifier: CA352636230

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48566281-A-G
• MyVariant Identifiers: chr3:g.48603714A>G (hg19) ; chr3:g.48566281A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8393T>C MANE Select	ENSP00000506558.1:p.Met2798Thr
ENST00000328333.12:c.8393T>C	ENSP00000332371.8:p.Met2798Thr
ENST00000487017.5:n.5032T>C
NM_000094.3:c.8393T>C , LRG_286t1:c.8393T>C	NP_000085.1:p.Met2798Thr
XM_011533336.1:c.8420T>C	XP_011531638.1:p.Met2807Thr
XM_011533337.1:c.8393T>C	XP_011531639.1:p.Met2798Thr
XM_011533338.1:c.8360T>C	XP_011531640.1:p.Met2787Thr
XR_940369.1:n.8456T>C
XR_940370.1:n.8456T>C
XR_940371.1:n.8456T>C
XM_017005688.1:c.8333T>C	XP_016861177.1:p.Met2778Thr
XR_001740003.1:n.8429T>C
XR_001740004.1:n.8429T>C
XR_001740005.1:n.8429T>C
NM_000094.4:c.8393T>C MANE Select	NP_000085.1:p.Met2798Thr