Canonical Allele Identifier: CA389862372

Gene: KIAA0586

Linked Data

• gnomAD v4: 14-58444010-A-C
• MyVariant Identifiers: chr14:g.58910728A>C (hg19) ; chr14:g.58444010A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58444010A>C , CM000676.2:g.58444010A>C	GRCh38
NC_000014.8:g.58910728A>C , CM000676.1:g.58910728A>C	GRCh37
NC_000014.7:g.57980481A>C	NCBI36
NG_051335.2:g.21626A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555203.6:n.332A>C
ENST00000619722.5:c.387A>C	ENSP00000481936.1:p.Leu129Phe
ENST00000650845.1:n.1188A>C
ENST00000650904.1:c.642A>C	ENSP00000498606.1:p.Leu214Phe
ENST00000651937.1:c.597A>C	ENSP00000498785.1:p.Leu199Phe
ENST00000652120.1:n.548A>C
ENST00000652326.2:c.642A>C MANE Select	ENSP00000498929.1:p.Leu214Phe
ENST00000652732.1:c.*208A>C	ENSP00000498799.1:n.*208A>C
ENST00000674802.1:n.874A>C
ENST00000261244.9:c.642A>C	ENSP00000261244.5:p.Leu214Phe
ENST00000354386.10:c.801A>C	ENSP00000346359.6:p.Leu267Phe
ENST00000423743.7:c.510A>C	ENSP00000399427.3:p.Leu170Phe
ENST00000538571.6:n.232A>C
ENST00000554463.5:c.387A>C	ENSP00000451831.1:p.Leu129Phe
ENST00000555203.5:c.*208A>C	ENSP00000452536.1:n.*208A>C
ENST00000555833.5:c.387A>C	ENSP00000450855.1:p.Leu129Phe
ENST00000556134.5:c.510A>C	ENSP00000452351.2:p.Leu170Phe
ENST00000557590.5:n.605A>C
ENST00000619416.4:c.597A>C	ENSP00000478083.1:p.Leu199Phe
ENST00000619722.4:c.387A>C	ENSP00000481936.1:p.Leu129Phe
NM_001244189.1:c.801A>C	NP_001231118.1:p.Leu267Phe
NM_001244190.1:c.597A>C	NP_001231119.1:p.Leu199Phe
NM_001244191.1:c.387A>C	NP_001231120.1:p.Leu129Phe
NM_001244192.1:c.510A>C	NP_001231121.1:p.Leu170Phe
NM_001244193.1:c.222A>C	NP_001231122.1:p.Leu74Phe
NM_014749.3:c.642A>C	NP_055564.3:p.Leu214Phe
NM_001329943.2:c.642A>C	NP_001316872.1:p.Leu214Phe
NM_001329944.1:c.642A>C	NP_001316873.1:p.Leu214Phe
NM_001329945.1:c.387A>C	NP_001316874.1:p.Leu129Phe
NM_001329946.1:c.642A>C	NP_001316875.1:p.Leu214Phe
NM_001329947.1:c.642A>C	NP_001316876.1:p.Leu214Phe
NM_001364700.1:c.387A>C	NP_001351629.1:p.Leu129Phe
NM_001364701.1:c.387A>C	NP_001351630.1:p.Leu129Phe
NM_014749.4:c.642A>C	NP_055564.3:p.Leu214Phe
XM_024449779.1:c.765A>C	XP_024305547.1:p.Leu255Phe
XM_024449780.1:c.642A>C	XP_024305548.1:p.Leu214Phe
XM_024449781.1:c.765A>C	XP_024305549.1:p.Leu255Phe
XM_024449782.1:c.387A>C	XP_024305550.1:p.Leu129Phe
XM_024449783.1:c.387A>C	XP_024305551.1:p.Leu129Phe
XM_024449784.1:c.387A>C	XP_024305552.1:p.Leu129Phe
XM_024449785.1:c.387A>C	XP_024305553.1:p.Leu129Phe
XM_024449787.1:c.246A>C	XP_024305555.1:p.Leu82Phe
XM_024449788.1:c.222A>C	XP_024305556.1:p.Leu74Phe
XM_024449789.1:c.222A>C	XP_024305557.1:p.Leu74Phe
XM_024449791.1:c.642A>C	XP_024305559.1:p.Leu214Phe
NM_001244189.2:c.801A>C	NP_001231118.1:p.Leu267Phe
NM_001244190.2:c.597A>C	NP_001231119.1:p.Leu199Phe
NM_001244192.2:c.510A>C	NP_001231121.1:p.Leu170Phe
NM_001329943.3:c.642A>C MANE Select	NP_001316872.1:p.Leu214Phe
NM_001329944.2:c.642A>C	NP_001316873.1:p.Leu214Phe
NM_001329945.2:c.387A>C	NP_001316874.1:p.Leu129Phe
NM_001329946.2:c.642A>C	NP_001316875.1:p.Leu214Phe
NM_001329947.2:c.642A>C	NP_001316876.1:p.Leu214Phe
NM_001364701.2:c.387A>C	NP_001351630.1:p.Leu129Phe
NM_014749.5:c.642A>C	NP_055564.3:p.Leu214Phe
NM_001244191.2:c.387A>C	NP_001231120.1:p.Leu129Phe
NM_001244193.2:c.222A>C	NP_001231122.1:p.Leu74Phe