Canonical Allele Identifier: CA387400413

Gene: CHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132887287C>G , CM000674.2:g.132887287C>G	GRCh38
NC_000012.11:g.133463873C>G , CM000674.1:g.133463873C>G	GRCh37
NC_000012.10:g.131973946C>G	NCBI36
NG_033999.1:g.5332G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450056.7:c.42G>C MANE Select	ENSP00000398735.2:p.Gln14His
ENST00000266880.11:c.42G>C	ENSP00000266880.8:p.Gln14His
ENST00000432561.6:c.42G>C	ENSP00000392395.2:p.Gln14His
ENST00000443047.6:c.42G>C	ENSP00000416431.2:p.Gln14His
ENST00000450056.6:c.42G>C	ENSP00000398735.2:p.Gln14His
ENST00000499045.2:n.412-9633G>C
ENST00000535181.5:n.72G>C
ENST00000536196.1:n.80G>C
ENST00000536932.5:c.-251-9633G>C	ENSP00000475247.1:n.-251-9633G>C
ENST00000537551.5:n.236G>C
ENST00000540537.5:c.-251-9633G>C	ENSP00000443237.2:n.-251-9633G>C
ENST00000540963.1:c.42G>C	ENSP00000441837.1:p.Gln14His
ENST00000541817.5:c.-251-9633G>C	ENSP00000445371.2:n.-251-9633G>C
ENST00000542714.5:c.-251-9633G>C	ENSP00000443761.1:n.-251-9633G>C
NM_001161344.1:c.42G>C	NP_001154816.1:p.Gln14His
NM_001161345.1:c.42G>C	NP_001154817.1:p.Gln14His
NM_001161346.1:c.42G>C	NP_001154818.1:p.Gln14His
NM_001161347.1:c.42G>C	NP_001154819.1:p.Gln14His
NM_018223.2:c.42G>C	NP_060693.2:p.Gln14His
NM_001161346.2:c.42G>C MANE Select	NP_001154818.1:p.Gln14His