Canonical Allele Identifier: CA1363076621

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568100C= , CM000665.2:g.48568100C=	GRCh38
NC_000003.11:g.48605533C= , CM000665.1:g.48605533C=	GRCh37
NC_000003.10:g.48580537C=	NCBI36
NG_007065.1:g.32153G= , LRG_286:g.32153G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7865G= MANE Select	ENSP00000506558.1:p.Arg2622=
ENST00000328333.12:c.7865G=	ENSP00000332371.8:p.Arg2622=
ENST00000459756.5:n.688G=
ENST00000487017.5:n.4504G=
NM_000094.3:c.7865G= , LRG_286t1:c.7865G=	NP_000085.1:p.Arg2622=
XM_011533336.1:c.7892G=	XP_011531638.1:p.Arg2631=
XM_011533337.1:c.7865G=	XP_011531639.1:p.Arg2622=
XM_011533338.1:c.7832G=	XP_011531640.1:p.Arg2611=
XR_940369.1:n.7928G=
XR_940370.1:n.7928G=
XR_940371.1:n.7928G=
XM_017005688.1:c.7805G=	XP_016861177.1:p.Arg2602=
XR_001740003.1:n.7901G=
XR_001740004.1:n.7901G=
XR_001740005.1:n.7901G=
NM_000094.4:c.7865G= MANE Select	NP_000085.1:p.Arg2622=