Canonical Allele Identifier: CA352632820

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564842C>T , CM000665.2:g.48564842C>T	GRCh38
NC_000003.11:g.48602275C>T , CM000665.1:g.48602275C>T	GRCh37
NC_000003.10:g.48577279C>T	NCBI36
NG_007065.1:g.35411G>A , LRG_286:g.35411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8759G>A MANE Select	ENSP00000506558.1:p.Gly2920Glu
ENST00000328333.12:c.8759G>A	ENSP00000332371.8:p.Gly2920Glu
ENST00000465238.5:n.178G>A
ENST00000466591.1:n.370G>A
ENST00000470076.1:n.151G>A
ENST00000487017.5:n.5398G>A
NM_000094.3:c.8759G>A , LRG_286t1:c.8759G>A	NP_000085.1:p.Gly2920Glu
XM_011533336.1:c.8786G>A	XP_011531638.1:p.Gly2929Glu
XM_011533337.1:c.8759G>A	XP_011531639.1:p.Gly2920Glu
XM_011533338.1:c.8726G>A	XP_011531640.1:p.Gly2909Glu
XR_940369.1:n.8895G>A
XR_940370.1:n.8859G>A
XR_940371.1:n.8856G>A
XM_017005688.1:c.8699G>A	XP_016861177.1:p.Gly2900Glu
XR_001740003.1:n.8868G>A
XR_001740004.1:n.8832G>A
XR_001740005.1:n.8829G>A
NM_000094.4:c.8759G>A MANE Select	NP_000085.1:p.Gly2920Glu