Canonical Allele Identifier: CA1363076558

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568071A= , CM000665.2:g.48568071A=	GRCh38
NC_000003.11:g.48605504A= , CM000665.1:g.48605504A=	GRCh37
NC_000003.10:g.48580508A=	NCBI36
NG_007065.1:g.32182T= , LRG_286:g.32182T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7875+19T= MANE Select	ENSP00000506558.1:n.7875+19T=
ENST00000328333.12:c.7875+19T=	ENSP00000332371.8:n.7875+19T=
ENST00000459756.5:n.698+19T=
ENST00000487017.5:n.4514+19T=
NM_000094.3:c.7875+19T= , LRG_286t1:c.7875+19T=	NP_000085.1:n.7875+19T=
XM_011533336.1:c.7902+19T=	XP_011531638.1:n.7902+19T=
XM_011533337.1:c.7875+19T=	XP_011531639.1:n.7875+19T=
XM_011533338.1:c.7842+19T=	XP_011531640.1:n.7842+19T=
XR_940369.1:n.7938+19T=
XR_940370.1:n.7938+19T=
XR_940371.1:n.7938+19T=
XM_017005688.1:c.7815+19T=	XP_016861177.1:n.7815+19T=
XR_001740003.1:n.7911+19T=
XR_001740004.1:n.7911+19T=
XR_001740005.1:n.7911+19T=
NM_000094.4:c.7875+19T= MANE Select	NP_000085.1:n.7875+19T=