Canonical Allele Identifier: CA1363079018

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565465G= , CM000665.2:g.48565465G=	GRCh38
NC_000003.11:g.48602898G= , CM000665.1:g.48602898G=	GRCh37
NC_000003.10:g.48577902G=	NCBI36
NG_007065.1:g.34788C= , LRG_286:g.34788C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8472C= MANE Select	ENSP00000506558.1:p.Ala2824=
ENST00000328333.12:c.8472C=	ENSP00000332371.8:p.Ala2824=
ENST00000487017.5:n.5111C=
NM_000094.3:c.8472C= , LRG_286t1:c.8472C=	NP_000085.1:p.Ala2824=
XM_011533336.1:c.8499C=	XP_011531638.1:p.Ala2833=
XM_011533337.1:c.8472C=	XP_011531639.1:p.Ala2824=
XM_011533338.1:c.8439C=	XP_011531640.1:p.Ala2813=
XR_940369.1:n.8535C=
XR_940370.1:n.8535C=
XR_940371.1:n.8535C=
XM_017005688.1:c.8412C=	XP_016861177.1:p.Ala2804=
XR_001740003.1:n.8508C=
XR_001740004.1:n.8508C=
XR_001740005.1:n.8508C=
NM_000094.4:c.8472C= MANE Select	NP_000085.1:p.Ala2824=