Canonical Allele Identifier: CA7205449

Gene: KIAA0586

Linked Data

• ClinVar Variation Id: 1214094
• ClinVar RCV Id: RCV001580855 ; RCV001866169
• dbSNP Id: rs779062959
• ExAC: 14:58910754 G / A
• gnomAD v2: 14-58910754-G-A
• gnomAD v3: 14-58444036-G-A
• gnomAD v4: 14-58444036-G-A
• MyVariant Identifiers: chr14:g.58910754G>A (hg19) ; chr14:g.58444036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58444036G>A , CM000676.2:g.58444036G>A	GRCh38
NC_000014.8:g.58910754G>A , CM000676.1:g.58910754G>A	GRCh37
NC_000014.7:g.57980507G>A	NCBI36
NG_051335.2:g.21652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555203.6:n.358G>A
ENST00000619722.5:c.413G>A	ENSP00000481936.1:p.Arg138His
ENST00000650845.1:n.1214G>A
ENST00000650904.1:c.668G>A	ENSP00000498606.1:p.Arg223His
ENST00000651937.1:c.623G>A	ENSP00000498785.1:p.Arg208His
ENST00000652120.1:n.574G>A
ENST00000652326.2:c.668G>A MANE Select	ENSP00000498929.1:p.Arg223His
ENST00000652732.1:c.*234G>A	ENSP00000498799.1:n.*234G>A
ENST00000674802.1:n.900G>A
ENST00000261244.9:c.668G>A	ENSP00000261244.5:p.Arg223His
ENST00000354386.10:c.827G>A	ENSP00000346359.6:p.Arg276His
ENST00000423743.7:c.536G>A	ENSP00000399427.3:p.Arg179His
ENST00000538571.6:n.258G>A
ENST00000555833.5:c.413G>A	ENSP00000450855.1:p.Arg138His
ENST00000556134.5:c.536G>A	ENSP00000452351.2:p.Arg179His
ENST00000557590.5:n.631G>A
ENST00000619416.4:c.623G>A	ENSP00000478083.1:p.Arg208His
ENST00000619722.4:c.413G>A	ENSP00000481936.1:p.Arg138His
NM_001244189.1:c.827G>A	NP_001231118.1:p.Arg276His
NM_001244190.1:c.623G>A	NP_001231119.1:p.Arg208His
NM_001244191.1:c.413G>A	NP_001231120.1:p.Arg138His
NM_001244192.1:c.536G>A	NP_001231121.1:p.Arg179His
NM_001244193.1:c.248G>A	NP_001231122.1:p.Arg83His
NM_014749.3:c.668G>A	NP_055564.3:p.Arg223His
NM_001329943.2:c.668G>A	NP_001316872.1:p.Arg223His
NM_001329944.1:c.668G>A	NP_001316873.1:p.Arg223His
NM_001329945.1:c.413G>A	NP_001316874.1:p.Arg138His
NM_001329946.1:c.668G>A	NP_001316875.1:p.Arg223His
NM_001329947.1:c.668G>A	NP_001316876.1:p.Arg223His
NM_001364700.1:c.413G>A	NP_001351629.1:p.Arg138His
NM_001364701.1:c.413G>A	NP_001351630.1:p.Arg138His
NM_014749.4:c.668G>A	NP_055564.3:p.Arg223His
XM_024449779.1:c.791G>A	XP_024305547.1:p.Arg264His
XM_024449780.1:c.668G>A	XP_024305548.1:p.Arg223His
XM_024449781.1:c.791G>A	XP_024305549.1:p.Arg264His
XM_024449782.1:c.413G>A	XP_024305550.1:p.Arg138His
XM_024449783.1:c.413G>A	XP_024305551.1:p.Arg138His
XM_024449784.1:c.413G>A	XP_024305552.1:p.Arg138His
XM_024449785.1:c.413G>A	XP_024305553.1:p.Arg138His
XM_024449787.1:c.272G>A	XP_024305555.1:p.Arg91His
XM_024449788.1:c.248G>A	XP_024305556.1:p.Arg83His
XM_024449789.1:c.248G>A	XP_024305557.1:p.Arg83His
XM_024449791.1:c.668G>A	XP_024305559.1:p.Arg223His
NM_001244189.2:c.827G>A	NP_001231118.1:p.Arg276His
NM_001244190.2:c.623G>A	NP_001231119.1:p.Arg208His
NM_001244192.2:c.536G>A	NP_001231121.1:p.Arg179His
NM_001329943.3:c.668G>A MANE Select	NP_001316872.1:p.Arg223His
NM_001329944.2:c.668G>A	NP_001316873.1:p.Arg223His
NM_001329945.2:c.413G>A	NP_001316874.1:p.Arg138His
NM_001329946.2:c.668G>A	NP_001316875.1:p.Arg223His
NM_001329947.2:c.668G>A	NP_001316876.1:p.Arg223His
NM_001364701.2:c.413G>A	NP_001351630.1:p.Arg138His
NM_014749.5:c.668G>A	NP_055564.3:p.Arg223His
NM_001244191.2:c.413G>A	NP_001231120.1:p.Arg138His
NM_001244193.2:c.248G>A	NP_001231122.1:p.Arg83His