Canonical Allele Identifier: CA1363076250

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567847C= , CM000665.2:g.48567847C=	GRCh38
NC_000003.11:g.48605280C= , CM000665.1:g.48605280C=	GRCh37
NC_000003.10:g.48580284C=	NCBI36
NG_007065.1:g.32406G= , LRG_286:g.32406G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7920G= MANE Select	ENSP00000506558.1:p.Lys2640=
ENST00000328333.12:c.7920G=	ENSP00000332371.8:p.Lys2640=
ENST00000459756.5:n.743G=
ENST00000487017.5:n.4559G=
NM_000094.3:c.7920G= , LRG_286t1:c.7920G=	NP_000085.1:p.Lys2640=
XM_011533336.1:c.7947G=	XP_011531638.1:p.Lys2649=
XM_011533337.1:c.7920G=	XP_011531639.1:p.Lys2640=
XM_011533338.1:c.7887G=	XP_011531640.1:p.Lys2629=
XR_940369.1:n.7983G=
XR_940370.1:n.7983G=
XR_940371.1:n.7983G=
XM_017005688.1:c.7860G=	XP_016861177.1:p.Lys2620=
XR_001740003.1:n.7956G=
XR_001740004.1:n.7956G=
XR_001740005.1:n.7956G=
NM_000094.4:c.7920G= MANE Select	NP_000085.1:p.Lys2640=