Canonical Allele Identifier: CA389862614

Gene: KIAA0586

Linked Data

• gnomAD v4: 14-58444071-C-G
• MyVariant Identifiers: chr14:g.58910789C>G (hg19) ; chr14:g.58444071C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58444071C>G , CM000676.2:g.58444071C>G	GRCh38
NC_000014.8:g.58910789C>G , CM000676.1:g.58910789C>G	GRCh37
NC_000014.7:g.57980542C>G	NCBI36
NG_051335.2:g.21687C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555203.6:n.393C>G
ENST00000619722.5:c.448C>G	ENSP00000481936.1:p.Gln150Glu
ENST00000650845.1:n.1249C>G
ENST00000650904.1:c.703C>G	ENSP00000498606.1:p.Gln235Glu
ENST00000651937.1:c.658C>G	ENSP00000498785.1:p.Gln220Glu
ENST00000652120.1:n.609C>G
ENST00000652326.2:c.703C>G MANE Select	ENSP00000498929.1:p.Gln235Glu
ENST00000652732.1:c.*269C>G	ENSP00000498799.1:n.*269C>G
ENST00000674802.1:n.935C>G
ENST00000261244.9:c.703C>G	ENSP00000261244.5:p.Gln235Glu
ENST00000354386.10:c.862C>G	ENSP00000346359.6:p.Gln288Glu
ENST00000423743.7:c.571C>G	ENSP00000399427.3:p.Gln191Glu
ENST00000538571.6:n.293C>G
ENST00000555833.5:c.448C>G	ENSP00000450855.1:p.Gln150Glu
ENST00000556134.5:c.571C>G	ENSP00000452351.2:p.Gln191Glu
ENST00000619416.4:c.658C>G	ENSP00000478083.1:p.Gln220Glu
ENST00000619722.4:c.448C>G	ENSP00000481936.1:p.Gln150Glu
NM_001244189.1:c.862C>G	NP_001231118.1:p.Gln288Glu
NM_001244190.1:c.658C>G	NP_001231119.1:p.Gln220Glu
NM_001244191.1:c.448C>G	NP_001231120.1:p.Gln150Glu
NM_001244192.1:c.571C>G	NP_001231121.1:p.Gln191Glu
NM_001244193.1:c.283C>G	NP_001231122.1:p.Gln95Glu
NM_014749.3:c.703C>G	NP_055564.3:p.Gln235Glu
NM_001329943.2:c.703C>G	NP_001316872.1:p.Gln235Glu
NM_001329944.1:c.703C>G	NP_001316873.1:p.Gln235Glu
NM_001329945.1:c.448C>G	NP_001316874.1:p.Gln150Glu
NM_001329946.1:c.703C>G	NP_001316875.1:p.Gln235Glu
NM_001329947.1:c.703C>G	NP_001316876.1:p.Gln235Glu
NM_001364700.1:c.448C>G	NP_001351629.1:p.Gln150Glu
NM_001364701.1:c.448C>G	NP_001351630.1:p.Gln150Glu
NM_014749.4:c.703C>G	NP_055564.3:p.Gln235Glu
XM_024449779.1:c.826C>G	XP_024305547.1:p.Gln276Glu
XM_024449780.1:c.703C>G	XP_024305548.1:p.Gln235Glu
XM_024449781.1:c.826C>G	XP_024305549.1:p.Gln276Glu
XM_024449782.1:c.448C>G	XP_024305550.1:p.Gln150Glu
XM_024449783.1:c.448C>G	XP_024305551.1:p.Gln150Glu
XM_024449784.1:c.448C>G	XP_024305552.1:p.Gln150Glu
XM_024449785.1:c.448C>G	XP_024305553.1:p.Gln150Glu
XM_024449787.1:c.307C>G	XP_024305555.1:p.Gln103Glu
XM_024449788.1:c.283C>G	XP_024305556.1:p.Gln95Glu
XM_024449789.1:c.283C>G	XP_024305557.1:p.Gln95Glu
XM_024449791.1:c.703C>G	XP_024305559.1:p.Gln235Glu
NM_001244189.2:c.862C>G	NP_001231118.1:p.Gln288Glu
NM_001244190.2:c.658C>G	NP_001231119.1:p.Gln220Glu
NM_001244192.2:c.571C>G	NP_001231121.1:p.Gln191Glu
NM_001329943.3:c.703C>G MANE Select	NP_001316872.1:p.Gln235Glu
NM_001329944.2:c.703C>G	NP_001316873.1:p.Gln235Glu
NM_001329945.2:c.448C>G	NP_001316874.1:p.Gln150Glu
NM_001329946.2:c.703C>G	NP_001316875.1:p.Gln235Glu
NM_001329947.2:c.703C>G	NP_001316876.1:p.Gln235Glu
NM_001364701.2:c.448C>G	NP_001351630.1:p.Gln150Glu
NM_014749.5:c.703C>G	NP_055564.3:p.Gln235Glu
NM_001244191.2:c.448C>G	NP_001231120.1:p.Gln150Glu
NM_001244193.2:c.283C>G	NP_001231122.1:p.Gln95Glu