Canonical Allele Identifier: CA1363075987

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567736C= , CM000665.2:g.48567736C=	GRCh38
NC_000003.11:g.48605169C= , CM000665.1:g.48605169C=	GRCh37
NC_000003.10:g.48580173C=	NCBI36
NG_007065.1:g.32517G= , LRG_286:g.32517G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7957G= MANE Select	ENSP00000506558.1:p.Gly2653=
ENST00000328333.12:c.7957G=	ENSP00000332371.8:p.Gly2653=
ENST00000459756.5:n.780G=
ENST00000487017.5:n.4596G=
NM_000094.3:c.7957G= , LRG_286t1:c.7957G=	NP_000085.1:p.Gly2653=
XM_011533336.1:c.7984G=	XP_011531638.1:p.Gly2662=
XM_011533337.1:c.7957G=	XP_011531639.1:p.Gly2653=
XM_011533338.1:c.7924G=	XP_011531640.1:p.Gly2642=
XR_940369.1:n.8020G=
XR_940370.1:n.8020G=
XR_940371.1:n.8020G=
XM_017005688.1:c.7897G=	XP_016861177.1:p.Gly2633=
XR_001740003.1:n.7993G=
XR_001740004.1:n.7993G=
XR_001740005.1:n.7993G=
NM_000094.4:c.7957G= MANE Select	NP_000085.1:p.Gly2653=