Canonical Allele Identifier: CA383331318
Community Standard Title: NM_018979.4(WNK1):c.4486A>T (p.Thr1496Ser)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.885290A>T , CM000674.2:g.885290A>T GRCh38
NC_000012.11:g.994456A>T , CM000674.1:g.994456A>T GRCh37
NC_000012.10:g.864717A>T NCBI36
NG_007984.2:g.137232A>T
NG_007984.3:g.137232A>T

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.4486A>T MANE Select NP_061852.3:p.Thr1496Ser
ENST00000315939.11:c.4486A>T MANE Select ENSP00000313059.6:p.Thr1496Ser
NM_213655.5:c.5242A>T MANE Plus Clinical NP_998820.3:p.Thr1748Ser
ENST00000340908.9:c.5242A>T MANE Plus Clinical ENSP00000341292.5:p.Thr1748Ser
NM_001184985.1:c.5266A>T NP_001171914.1:p.Thr1756Ser
NM_001184985.2:c.5266A>T NP_001171914.1:p.Thr1756Ser
NM_014823.2:c.3745A>T NP_055638.2:p.Thr1249Ser
NM_014823.3:c.3745A>T NP_055638.2:p.Thr1249Ser
NM_018979.3:c.4486A>T NP_061852.3:p.Thr1496Ser
NM_213655.4:c.5242A>T NP_998820.3:p.Thr1748Ser
ENST00000315939.10:c.4486A>T ENSP00000313059.6:p.Thr1496Ser
ENST00000340908.8:c.5242A>T ENSP00000341292.5:p.Thr1748Ser
ENST00000530271.6:c.5725A>T ENSP00000433548.3:p.Thr1909Ser
ENST00000535572.5:c.3745A>T ENSP00000441972.1:p.Thr1249Ser
ENST00000537687.5:c.5266A>T ENSP00000444465.1:p.Thr1756Ser
ENST00000675236.1:n.3381A>T
ENST00000675631.1:c.3265A>T ENSP00000502415.1:p.Thr1089Ser
ENST00000676347.1:c.1933A>T ENSP00000501875.1:p.Thr645Ser
XM_006719003.1:c.4483A>T XP_006719066.1:p.Thr1495Ser
XM_006719003.2:c.4483A>T XP_006719066.1:p.Thr1495Ser
XM_011520997.1:c.5725A>T XP_011519299.1:p.Thr1909Ser
XM_011520997.3:c.5725A>T XP_011519299.1:p.Thr1909Ser
XM_011520998.1:c.5722A>T XP_011519300.1:p.Thr1908Ser
XM_011520998.2:c.5722A>T XP_011519300.1:p.Thr1908Ser
XM_011520999.1:c.5725A>T XP_011519301.1:p.Thr1909Ser
XM_011520999.2:c.5725A>T XP_011519301.1:p.Thr1909Ser
XM_011521000.1:c.5725A>T XP_011519302.1:p.Thr1909Ser
XM_011521000.2:c.5725A>T XP_011519302.1:p.Thr1909Ser
XM_011521001.1:c.5446A>T XP_011519303.1:p.Thr1816Ser
XM_011521001.2:c.5446A>T XP_011519303.1:p.Thr1816Ser
XM_011521002.1:c.5263A>T XP_011519304.1:p.Thr1755Ser
XM_011521002.2:c.5263A>T XP_011519304.1:p.Thr1755Ser
XM_011521003.1:c.4987A>T XP_011519305.1:p.Thr1663Ser
XM_011521003.2:c.4987A>T XP_011519305.1:p.Thr1663Ser
XM_011521004.1:c.4984A>T XP_011519306.1:p.Thr1662Ser
XM_011521004.2:c.4984A>T XP_011519306.1:p.Thr1662Ser
XM_011521005.1:c.4504A>T XP_011519307.1:p.Thr1502Ser
XM_011521005.2:c.4504A>T XP_011519307.1:p.Thr1502Ser
XM_011521006.1:c.4402A>T XP_011519308.1:p.Thr1468Ser
XM_011521006.2:c.4402A>T XP_011519308.1:p.Thr1468Ser
XM_011521007.1:c.4399A>T XP_011519309.1:p.Thr1467Ser
XM_011521007.2:c.4399A>T XP_011519309.1:p.Thr1467Ser
XM_011521008.1:c.3664A>T XP_011519310.1:p.Thr1222Ser
XM_011521008.2:c.3664A>T XP_011519310.1:p.Thr1222Ser
XM_011521009.1:c.3661A>T XP_011519311.1:p.Thr1221Ser
XM_011521009.2:c.3661A>T XP_011519311.1:p.Thr1221Ser
XM_017019834.1:c.4024A>T XP_016875323.1:p.Thr1342Ser
XM_017019835.1:c.3943A>T XP_016875324.1:p.Thr1315Ser
XM_017019836.1:c.3940A>T XP_016875325.1:p.Thr1314Ser
XM_017019837.1:c.3748A>T XP_016875326.1:p.Thr1250Ser
XM_017019838.1:c.3745A>T XP_016875327.1:p.Thr1249Ser
XM_017019839.1:c.3664A>T XP_016875328.1:p.Thr1222Ser