Canonical Allele Identifier: CA710132

Gene: KDF1

Linked Data

• ClinVar Variation Id: 2040700
• ClinVar RCV Id: RCV002912668 ; RCV003916577
• dbSNP Id: rs144377897
• ExAC: 1:27276590 C / T
• gnomAD v2: 1-27276590-C-T
• gnomAD v3: 1-26950099-C-T
• gnomAD v4: 1-26950099-C-T
• MyVariant Identifiers: chr1:g.27276590C>T (hg19) ; chr1:g.26950099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26950099C>T , CM000663.2:g.26950099C>T	GRCh38
NC_000001.10:g.27276590C>T , CM000663.1:g.27276590C>T	GRCh37
NC_000001.9:g.27149177C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320567.6:c.1167G>A MANE Select	ENSP00000319179.5:p.Ser389=
ENST00000320567.5:c.1167G>A	ENSP00000319179.5:p.Ser389=
ENST00000616918.1:c.*425G>A	ENSP00000481107.1:n.*425G>A
NM_152365.2:c.1167G>A	NP_689578.2:p.Ser389=
XM_005245735.2:c.1167G>A	XP_005245792.1:p.Ser389=
XM_011540622.1:c.1167G>A	XP_011538924.1:p.Ser389=
XM_011540622.2:c.1167G>A	XP_011538924.1:p.Ser389=
NM_152365.3:c.1167G>A MANE Select	NP_689578.2:p.Ser389=