Canonical Allele Identifier: CA1363080186

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566291G= , CM000665.2:g.48566291G=	GRCh38
NC_000003.11:g.48603724G= , CM000665.1:g.48603724G=	GRCh37
NC_000003.10:g.48578728G=	NCBI36
NG_007065.1:g.33962C= , LRG_286:g.33962C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8383C= MANE Select	ENSP00000506558.1:p.Arg2795=
ENST00000328333.12:c.8383C=	ENSP00000332371.8:p.Arg2795=
ENST00000487017.5:n.5022C=
NM_000094.3:c.8383C= , LRG_286t1:c.8383C=	NP_000085.1:p.Arg2795=
XM_011533336.1:c.8410C=	XP_011531638.1:p.Arg2804=
XM_011533337.1:c.8383C=	XP_011531639.1:p.Arg2795=
XM_011533338.1:c.8350C=	XP_011531640.1:p.Arg2784=
XR_940369.1:n.8446C=
XR_940370.1:n.8446C=
XR_940371.1:n.8446C=
XM_017005688.1:c.8323C=	XP_016861177.1:p.Arg2775=
XR_001740003.1:n.8419C=
XR_001740004.1:n.8419C=
XR_001740005.1:n.8419C=
NM_000094.4:c.8383C= MANE Select	NP_000085.1:p.Arg2795=