Canonical Allele Identifier: CA352632684

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564824T>A , CM000665.2:g.48564824T>A	GRCh38
NC_000003.11:g.48602257T>A , CM000665.1:g.48602257T>A	GRCh37
NC_000003.10:g.48577261T>A	NCBI36
NG_007065.1:g.35429A>T , LRG_286:g.35429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8777A>T MANE Select	ENSP00000506558.1:p.Glu2926Val
ENST00000328333.12:c.8777A>T	ENSP00000332371.8:p.Glu2926Val
ENST00000465238.5:n.196A>T
ENST00000466591.1:n.388A>T
ENST00000470076.1:n.169A>T
ENST00000487017.5:n.5416A>T
NM_000094.3:c.8777A>T , LRG_286t1:c.8777A>T	NP_000085.1:p.Glu2926Val
XM_011533336.1:c.8804A>T	XP_011531638.1:p.Glu2935Val
XM_011533337.1:c.8777A>T	XP_011531639.1:p.Glu2926Val
XM_011533338.1:c.8744A>T	XP_011531640.1:p.Glu2915Val
XR_940369.1:n.8913A>T
XR_940370.1:n.8877A>T
XR_940371.1:n.8874A>T
XM_017005688.1:c.8717A>T	XP_016861177.1:p.Glu2906Val
XR_001740003.1:n.8886A>T
XR_001740004.1:n.8850A>T
XR_001740005.1:n.8847A>T
NM_000094.4:c.8777A>T MANE Select	NP_000085.1:p.Glu2926Val