Canonical Allele Identifier: CA710306

Gene: KDF1

Linked Data

• ClinVar Variation Id: 782681
• ClinVar RCV Id: RCV000964106 ; RCV003905869
• dbSNP Id: rs150246438
• ExAC: 1:27278439 G / A
• gnomAD v2: 1-27278439-G-A
• gnomAD v3: 1-26951948-G-A
• gnomAD v4: 1-26951948-G-A
• MyVariant Identifiers: chr1:g.27278439G>A (hg19) ; chr1:g.26951948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26951948G>A , CM000663.2:g.26951948G>A	GRCh38
NC_000001.10:g.27278439G>A , CM000663.1:g.27278439G>A	GRCh37
NC_000001.9:g.27151026G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320567.6:c.433C>T MANE Select	ENSP00000319179.5:p.Arg145Trp
ENST00000320567.5:c.433C>T	ENSP00000319179.5:p.Arg145Trp
ENST00000616918.1:c.315C>T	ENSP00000481107.1:p.Ala105=
NM_152365.2:c.433C>T	NP_689578.2:p.Arg145Trp
XM_005245735.2:c.433C>T	XP_005245792.1:p.Arg145Trp
XM_011540622.1:c.433C>T	XP_011538924.1:p.Arg145Trp
XM_011540622.2:c.433C>T	XP_011538924.1:p.Arg145Trp
NM_152365.3:c.433C>T MANE Select	NP_689578.2:p.Arg145Trp