Canonical Allele Identifier: CA1363076057

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567760C= , CM000665.2:g.48567760C=	GRCh38
NC_000003.11:g.48605193C= , CM000665.1:g.48605193C=	GRCh37
NC_000003.10:g.48580197C=	NCBI36
NG_007065.1:g.32493G= , LRG_286:g.32493G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7933G= MANE Select	ENSP00000506558.1:p.Glu2645=
ENST00000328333.12:c.7933G=	ENSP00000332371.8:p.Glu2645=
ENST00000459756.5:n.756G=
ENST00000487017.5:n.4572G=
NM_000094.3:c.7933G= , LRG_286t1:c.7933G=	NP_000085.1:p.Glu2645=
XM_011533336.1:c.7960G=	XP_011531638.1:p.Glu2654=
XM_011533337.1:c.7933G=	XP_011531639.1:p.Glu2645=
XM_011533338.1:c.7900G=	XP_011531640.1:p.Glu2634=
XR_940369.1:n.7996G=
XR_940370.1:n.7996G=
XR_940371.1:n.7996G=
XM_017005688.1:c.7873G=	XP_016861177.1:p.Glu2625=
XR_001740003.1:n.7969G=
XR_001740004.1:n.7969G=
XR_001740005.1:n.7969G=
NM_000094.4:c.7933G= MANE Select	NP_000085.1:p.Glu2645=