Canonical Allele Identifier: CA339159756

Gene: KDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26951630A>G , CM000663.2:g.26951630A>G	GRCh38
NC_000001.10:g.27278121A>G , CM000663.1:g.27278121A>G	GRCh37
NC_000001.9:g.27150708A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152365.3:c.751T>C MANE Select	NP_689578.2:p.Phe251Leu
ENST00000320567.6:c.751T>C MANE Select	ENSP00000319179.5:p.Phe251Leu
NM_152365.2:c.751T>C	NP_689578.2:p.Phe251Leu
ENST00000320567.5:c.751T>C	ENSP00000319179.5:p.Phe251Leu
ENST00000616918.1:c.*9T>C	ENSP00000481107.1:n.*9T>C
XM_005245735.2:c.751T>C	XP_005245792.1:p.Phe251Leu
XM_011540622.1:c.751T>C	XP_011538924.1:p.Phe251Leu
XM_011540622.2:c.751T>C	XP_011538924.1:p.Phe251Leu