Canonical Allele Identifier: CA2073101018

Gene: CHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132851656G= , CM000674.2:g.132851656G=	GRCh38
NC_000012.11:g.133428242G= , CM000674.1:g.133428242G=	GRCh37
NC_000012.10:g.131938315G=	NCBI36
NG_033999.1:g.40963C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450056.7:c.1454C= MANE Select	ENSP00000398735.2:p.Ala485=
ENST00000266880.11:c.1367C=	ENSP00000266880.8:p.Ala456=
ENST00000315585.11:c.890C=	ENSP00000320557.8:p.Ala297=
ENST00000432561.6:c.1490C=	ENSP00000392395.2:p.Ala497=
ENST00000443047.6:c.1214C=	ENSP00000416431.2:p.Ala405=
ENST00000450056.6:c.1454C=	ENSP00000398735.2:p.Ala485=
ENST00000535527.5:c.99-2932C=	ENSP00000478791.1:n.99-2932C=
ENST00000538235.2:n.59+1775C=
ENST00000544093.5:c.3C=
ENST00000544268.5:n.753C=
NM_001161344.1:c.1490C=	NP_001154816.1:p.Ala497=
NM_001161345.1:c.1487C=	NP_001154817.1:p.Ala496=
NM_001161346.1:c.1454C=	NP_001154818.1:p.Ala485=
NM_001161347.1:c.1214C=	NP_001154819.1:p.Ala405=
NM_018223.2:c.1367C=	NP_060693.2:p.Ala456=
NM_001161346.2:c.1454C= MANE Select	NP_001154818.1:p.Ala485=