Canonical Allele Identifier: CA1363080748

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566686C= , CM000665.2:g.48566686C=	GRCh38
NC_000003.11:g.48604119C= , CM000665.1:g.48604119C=	GRCh37
NC_000003.10:g.48579123C=	NCBI36
NG_007065.1:g.33567G= , LRG_286:g.33567G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8278G= MANE Select	NP_000085.1:p.Gly2760=
ENST00000681320.1:c.8278G= MANE Select	ENSP00000506558.1:p.Gly2760=
NM_000094.3:c.8278G= , LRG_286t1:c.8278G=	NP_000085.1:p.Gly2760=
ENST00000328333.12:c.8278G=	ENSP00000332371.8:p.Gly2760=
ENST00000474432.1:n.678G=
ENST00000487017.5:n.4917G=
XM_011533336.1:c.8305G=	XP_011531638.1:p.Gly2769=
XM_011533337.1:c.8278G=	XP_011531639.1:p.Gly2760=
XM_011533338.1:c.8245G=	XP_011531640.1:p.Gly2749=
XM_017005688.1:c.8218G=	XP_016861177.1:p.Gly2740=
XR_001740003.1:n.8314G=
XR_001740004.1:n.8314G=
XR_001740005.1:n.8314G=
XR_940369.1:n.8341G=
XR_940370.1:n.8341G=
XR_940371.1:n.8341G=