Canonical Allele Identifier: CA1288366063

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130597896G= , CM000664.2:g.130597896G=	GRCh38
NC_000002.11:g.131355469G= , CM000664.1:g.131355469G=	GRCh37
NC_000002.10:g.131071939G=	NCBI36
NG_008148.1:g.6614C=

Transcript Alleles

HGVS	Amino-acid Change
NM_032545.4:c.334C= MANE Select	NP_115934.1:p.Arg112=
ENST00000259216.6:c.334C= MANE Select	ENSP00000259216.5:p.Arg112=
NM_001270420.1:c.248-293C=	NP_001257349.1:n.248-293C=
NM_001270420.2:c.248-293C=	NP_001257349.1:n.248-293C=
NM_001270421.1:c.247+746C=	NP_001257350.1:n.247+746C=
NM_001270421.2:c.247+746C=	NP_001257350.1:n.247+746C=
NM_032545.3:c.334C=	NP_115934.1:p.Arg112=
ENST00000259216.4:c.334C=	ENSP00000259216.4:p.Arg112=
ENST00000615342.4:c.248-293C=	ENSP00000480526.1:n.248-293C=
ENST00000621673.4:c.247+746C=	ENSP00000480843.1:n.247+746C=