Canonical Allele Identifier: CA1363076120

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567793T= , CM000665.2:g.48567793T=	GRCh38
NC_000003.11:g.48605226T= , CM000665.1:g.48605226T=	GRCh37
NC_000003.10:g.48580230T=	NCBI36
NG_007065.1:g.32460A= , LRG_286:g.32460A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7930-30A= MANE Select	ENSP00000506558.1:n.7930-30A=
ENST00000328333.12:c.7930-30A=	ENSP00000332371.8:n.7930-30A=
ENST00000459756.5:n.753-30A=
ENST00000487017.5:n.4569-30A=
NM_000094.3:c.7930-30A= , LRG_286t1:c.7930-30A=	NP_000085.1:n.7930-30A=
XM_011533336.1:c.7957-30A=	XP_011531638.1:n.7957-30A=
XM_011533337.1:c.7930-30A=	XP_011531639.1:n.7930-30A=
XM_011533338.1:c.7897-30A=	XP_011531640.1:n.7897-30A=
XR_940369.1:n.7993-30A=
XR_940370.1:n.7993-30A=
XR_940371.1:n.7993-30A=
XM_017005688.1:c.7870-30A=	XP_016861177.1:n.7870-30A=
XR_001740003.1:n.7966-30A=
XR_001740004.1:n.7966-30A=
XR_001740005.1:n.7966-30A=
NM_000094.4:c.7930-30A= MANE Select	NP_000085.1:n.7930-30A=