Canonical Allele Identifier: CA1363075943

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567713C= , CM000665.2:g.48567713C=	GRCh38
NC_000003.11:g.48605146C= , CM000665.1:g.48605146C=	GRCh37
NC_000003.10:g.48580150C=	NCBI36
NG_007065.1:g.32540G= , LRG_286:g.32540G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7980G= MANE Select	ENSP00000506558.1:p.Glu2660=
ENST00000328333.12:c.7980G=	ENSP00000332371.8:p.Glu2660=
ENST00000459756.5:n.803G=
ENST00000487017.5:n.4619G=
NM_000094.3:c.7980G= , LRG_286t1:c.7980G=	NP_000085.1:p.Glu2660=
XM_011533336.1:c.8007G=	XP_011531638.1:p.Glu2669=
XM_011533337.1:c.7980G=	XP_011531639.1:p.Glu2660=
XM_011533338.1:c.7947G=	XP_011531640.1:p.Glu2649=
XR_940369.1:n.8043G=
XR_940370.1:n.8043G=
XR_940371.1:n.8043G=
XM_017005688.1:c.7920G=	XP_016861177.1:p.Glu2640=
XR_001740003.1:n.8016G=
XR_001740004.1:n.8016G=
XR_001740005.1:n.8016G=
NM_000094.4:c.7980G= MANE Select	NP_000085.1:p.Glu2660=