Canonical Allele Identifier: CA1363076613

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568098C= , CM000665.2:g.48568098C=	GRCh38
NC_000003.11:g.48605531C= , CM000665.1:g.48605531C=	GRCh37
NC_000003.10:g.48580535C=	NCBI36
NG_007065.1:g.32155G= , LRG_286:g.32155G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7867G= MANE Select	ENSP00000506558.1:p.Gly2623=
ENST00000328333.12:c.7867G=	ENSP00000332371.8:p.Gly2623=
ENST00000459756.5:n.690G=
ENST00000487017.5:n.4506G=
NM_000094.3:c.7867G= , LRG_286t1:c.7867G=	NP_000085.1:p.Gly2623=
XM_011533336.1:c.7894G=	XP_011531638.1:p.Gly2632=
XM_011533337.1:c.7867G=	XP_011531639.1:p.Gly2623=
XM_011533338.1:c.7834G=	XP_011531640.1:p.Gly2612=
XR_940369.1:n.7930G=
XR_940370.1:n.7930G=
XR_940371.1:n.7930G=
XM_017005688.1:c.7807G=	XP_016861177.1:p.Gly2603=
XR_001740003.1:n.7903G=
XR_001740004.1:n.7903G=
XR_001740005.1:n.7903G=
NM_000094.4:c.7867G= MANE Select	NP_000085.1:p.Gly2623=