Canonical Allele Identifier: CA486664909
Gene: KIAA0586 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.58910783A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58444065A>C , CM000676.2:g.58444065A>C GRCh38
NC_000014.8:g.58910783A>C , CM000676.1:g.58910783A>C GRCh37
NC_000014.7:g.57980536A>C NCBI36
NG_051335.2:g.21681A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000555203.6:n.387A>C
ENST00000619722.5:c.442A>C ENSP00000481936.1:p.Arg148=
ENST00000650845.1:n.1243A>C
ENST00000650904.1:c.697A>C ENSP00000498606.1:p.Arg233=
ENST00000651937.1:c.652A>C ENSP00000498785.1:p.Arg218=
ENST00000652120.1:n.603A>C
ENST00000652326.2:c.697A>C MANE Select ENSP00000498929.1:p.Arg233=
ENST00000652732.1:c.*263A>C ENSP00000498799.1:n.*263A>C
ENST00000674802.1:n.929A>C
ENST00000261244.9:c.697A>C ENSP00000261244.5:p.Arg233=
ENST00000354386.10:c.856A>C ENSP00000346359.6:p.Arg286=
ENST00000423743.7:c.565A>C ENSP00000399427.3:p.Arg189=
ENST00000538571.6:n.287A>C
ENST00000555833.5:c.442A>C ENSP00000450855.1:p.Arg148=
ENST00000556134.5:c.565A>C ENSP00000452351.2:p.Arg189=
ENST00000619416.4:c.652A>C ENSP00000478083.1:p.Arg218=
ENST00000619722.4:c.442A>C ENSP00000481936.1:p.Arg148=
NM_001244189.1:c.856A>C NP_001231118.1:p.Arg286=
NM_001244190.1:c.652A>C NP_001231119.1:p.Arg218=
NM_001244191.1:c.442A>C NP_001231120.1:p.Arg148=
NM_001244192.1:c.565A>C NP_001231121.1:p.Arg189=
NM_001244193.1:c.277A>C NP_001231122.1:p.Arg93=
NM_014749.3:c.697A>C NP_055564.3:p.Arg233=
NM_001329943.2:c.697A>C NP_001316872.1:p.Arg233=
NM_001329944.1:c.697A>C NP_001316873.1:p.Arg233=
NM_001329945.1:c.442A>C NP_001316874.1:p.Arg148=
NM_001329946.1:c.697A>C NP_001316875.1:p.Arg233=
NM_001329947.1:c.697A>C NP_001316876.1:p.Arg233=
NM_001364700.1:c.442A>C NP_001351629.1:p.Arg148=
NM_001364701.1:c.442A>C NP_001351630.1:p.Arg148=
NM_014749.4:c.697A>C NP_055564.3:p.Arg233=
XM_024449779.1:c.820A>C XP_024305547.1:p.Arg274=
XM_024449780.1:c.697A>C XP_024305548.1:p.Arg233=
XM_024449781.1:c.820A>C XP_024305549.1:p.Arg274=
XM_024449782.1:c.442A>C XP_024305550.1:p.Arg148=
XM_024449783.1:c.442A>C XP_024305551.1:p.Arg148=
XM_024449784.1:c.442A>C XP_024305552.1:p.Arg148=
XM_024449785.1:c.442A>C XP_024305553.1:p.Arg148=
XM_024449787.1:c.301A>C XP_024305555.1:p.Arg101=
XM_024449788.1:c.277A>C XP_024305556.1:p.Arg93=
XM_024449789.1:c.277A>C XP_024305557.1:p.Arg93=
XM_024449791.1:c.697A>C XP_024305559.1:p.Arg233=
NM_001244189.2:c.856A>C NP_001231118.1:p.Arg286=
NM_001244190.2:c.652A>C NP_001231119.1:p.Arg218=
NM_001244192.2:c.565A>C NP_001231121.1:p.Arg189=
NM_001329943.3:c.697A>C MANE Select NP_001316872.1:p.Arg233=
NM_001329944.2:c.697A>C NP_001316873.1:p.Arg233=
NM_001329945.2:c.442A>C NP_001316874.1:p.Arg148=
NM_001329946.2:c.697A>C NP_001316875.1:p.Arg233=
NM_001329947.2:c.697A>C NP_001316876.1:p.Arg233=
NM_001364701.2:c.442A>C NP_001351630.1:p.Arg148=
NM_014749.5:c.697A>C NP_055564.3:p.Arg233=
NM_001244191.2:c.442A>C NP_001231120.1:p.Arg148=
NM_001244193.2:c.277A>C NP_001231122.1:p.Arg93=