Canonical Allele Identifier: CA352632641

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564819G>A , CM000665.2:g.48564819G>A	GRCh38
NC_000003.11:g.48602252G>A , CM000665.1:g.48602252G>A	GRCh37
NC_000003.10:g.48577256G>A	NCBI36
NG_007065.1:g.35434C>T , LRG_286:g.35434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8782C>T MANE Select	ENSP00000506558.1:p.Arg2928Cys
ENST00000328333.12:c.8782C>T	ENSP00000332371.8:p.Arg2928Cys
ENST00000465238.5:n.201C>T
ENST00000466591.1:n.393C>T
ENST00000470076.1:n.174C>T
ENST00000487017.5:n.5421C>T
NM_000094.3:c.8782C>T , LRG_286t1:c.8782C>T	NP_000085.1:p.Arg2928Cys
XM_011533336.1:c.8809C>T	XP_011531638.1:p.Arg2937Cys
XM_011533337.1:c.8782C>T	XP_011531639.1:p.Arg2928Cys
XM_011533338.1:c.8749C>T	XP_011531640.1:p.Arg2917Cys
XR_940369.1:n.8918C>T
XR_940370.1:n.8882C>T
XR_940371.1:n.8879C>T
XM_017005688.1:c.8722C>T	XP_016861177.1:p.Arg2908Cys
XR_001740003.1:n.8891C>T
XR_001740004.1:n.8855C>T
XR_001740005.1:n.8852C>T
NM_000094.4:c.8782C>T MANE Select	NP_000085.1:p.Arg2928Cys