Canonical Allele Identifier: CA433533060

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568137G>T , CM000665.2:g.48568137G>T	GRCh38
NC_000003.11:g.48605570G>T , CM000665.1:g.48605570G>T	GRCh37
NC_000003.10:g.48580574G>T	NCBI36
NG_007065.1:g.32116C>A , LRG_286:g.32116C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.7828C>A MANE Select	NP_000085.1:p.Arg2610=
ENST00000681320.1:c.7828C>A MANE Select	ENSP00000506558.1:p.Arg2610=
NM_000094.3:c.7828C>A , LRG_286t1:c.7828C>A	NP_000085.1:p.Arg2610=
ENST00000328333.12:c.7828C>A	ENSP00000332371.8:p.Arg2610=
ENST00000459756.5:n.651C>A
ENST00000487017.5:n.4467C>A
XM_011533336.1:c.7855C>A	XP_011531638.1:p.Arg2619=
XM_011533337.1:c.7828C>A	XP_011531639.1:p.Arg2610=
XM_011533338.1:c.7795C>A	XP_011531640.1:p.Arg2599=
XM_017005688.1:c.7768C>A	XP_016861177.1:p.Arg2590=
XR_001740003.1:n.7864C>A
XR_001740004.1:n.7864C>A
XR_001740005.1:n.7864C>A
XR_001740006.1:n.7838C>A
XR_940369.1:n.7891C>A
XR_940370.1:n.7891C>A
XR_940371.1:n.7891C>A
XR_940372.1:n.7865C>A