Canonical Allele Identifier: CA352636108

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48566270-A-G
• MyVariant Identifiers: chr3:g.48603703A>G (hg19) ; chr3:g.48566270A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566270A>G , CM000665.2:g.48566270A>G	GRCh38
NC_000003.11:g.48603703A>G , CM000665.1:g.48603703A>G	GRCh37
NC_000003.10:g.48578707A>G	NCBI36
NG_007065.1:g.33983T>C , LRG_286:g.33983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8404T>C MANE Select	ENSP00000506558.1:p.Cys2802Arg
ENST00000328333.12:c.8404T>C	ENSP00000332371.8:p.Cys2802Arg
ENST00000487017.5:n.5043T>C
NM_000094.3:c.8404T>C , LRG_286t1:c.8404T>C	NP_000085.1:p.Cys2802Arg
XM_011533336.1:c.8431T>C	XP_011531638.1:p.Cys2811Arg
XM_011533337.1:c.8404T>C	XP_011531639.1:p.Cys2802Arg
XM_011533338.1:c.8371T>C	XP_011531640.1:p.Cys2791Arg
XR_940369.1:n.8467T>C
XR_940370.1:n.8467T>C
XR_940371.1:n.8467T>C
XM_017005688.1:c.8344T>C	XP_016861177.1:p.Cys2782Arg
XR_001740003.1:n.8440T>C
XR_001740004.1:n.8440T>C
XR_001740005.1:n.8440T>C
NM_000094.4:c.8404T>C MANE Select	NP_000085.1:p.Cys2802Arg