Canonical Allele Identifier: CA387417113

Gene: CHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132847076C>A , CM000674.2:g.132847076C>A	GRCh38
NC_000012.11:g.133423662C>A , CM000674.1:g.133423662C>A	GRCh37
NC_000012.10:g.131933735C>A	NCBI36
NG_033999.1:g.45543G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001161346.2:c.1702G>T MANE Select	NP_001154818.1:p.Val568Leu
ENST00000450056.7:c.1702G>T MANE Select	ENSP00000398735.2:p.Val568Leu
NM_001161344.1:c.1738G>T	NP_001154816.1:p.Val580Leu
NM_001161345.1:c.1735G>T	NP_001154817.1:p.Val579Leu
NM_001161346.1:c.1702G>T	NP_001154818.1:p.Val568Leu
NM_001161347.1:c.1462G>T	NP_001154819.1:p.Val488Leu
NM_018223.2:c.1615G>T	NP_060693.2:p.Val539Leu
ENST00000266880.11:c.1615G>T	ENSP00000266880.8:p.Val539Leu
ENST00000315585.11:c.*156G>T	ENSP00000320557.8:n.*156G>T
ENST00000432561.6:c.1738G>T	ENSP00000392395.2:p.Val580Leu
ENST00000443047.6:c.1462G>T	ENSP00000416431.2:p.Val488Leu
ENST00000450056.6:c.1702G>T	ENSP00000398735.2:p.Val568Leu
ENST00000535527.5:c.308G>T	ENSP00000478791.1:n.308G>T
ENST00000536843.5:n.962G>T
ENST00000538235.2:n.269G>T
ENST00000541341.5:n.163G>T
ENST00000544093.5:c.256G>T
ENST00000544268.5:n.1006G>T
ENST00000545046.5:n.727G>T