Canonical Allele Identifier: CA352632598

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564815C>A , CM000665.2:g.48564815C>A	GRCh38
NC_000003.11:g.48602248C>A , CM000665.1:g.48602248C>A	GRCh37
NC_000003.10:g.48577252C>A	NCBI36
NG_007065.1:g.35438G>T , LRG_286:g.35438G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8786G>T MANE Select	NP_000085.1:p.Cys2929Phe
ENST00000681320.1:c.8786G>T MANE Select	ENSP00000506558.1:p.Cys2929Phe
NM_000094.3:c.8786G>T , LRG_286t1:c.8786G>T	NP_000085.1:p.Cys2929Phe
ENST00000328333.12:c.8786G>T	ENSP00000332371.8:p.Cys2929Phe
ENST00000465238.5:n.205G>T
ENST00000466591.1:n.397G>T
ENST00000470076.1:n.178G>T
ENST00000487017.5:n.5425G>T
XM_011533336.1:c.8813G>T	XP_011531638.1:p.Cys2938Phe
XM_011533337.1:c.8786G>T	XP_011531639.1:p.Cys2929Phe
XM_011533338.1:c.8753G>T	XP_011531640.1:p.Cys2918Phe
XM_017005688.1:c.8726G>T	XP_016861177.1:p.Cys2909Phe
XR_001740003.1:n.8895G>T
XR_001740004.1:n.8859G>T
XR_001740005.1:n.8856G>T
XR_940369.1:n.8922G>T
XR_940370.1:n.8886G>T
XR_940371.1:n.8883G>T