Canonical Allele Identifier: CA6383059
Community Standard Title: NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.885854A>G , CM000674.2:g.885854A>G GRCh38
NC_000012.11:g.995020A>G , CM000674.1:g.995020A>G GRCh37
NC_000012.10:g.865281A>G NCBI36
NG_007984.2:g.137796A>G
NG_007984.3:g.137796A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5050A>G MANE Select NP_061852.3:p.Ile1684Val
ENST00000315939.11:c.5050A>G MANE Select ENSP00000313059.6:p.Ile1684Val
NM_213655.5:c.5806A>G MANE Plus Clinical NP_998820.3:p.Ile1936Val
ENST00000340908.9:c.5806A>G MANE Plus Clinical ENSP00000341292.5:p.Ile1936Val
NM_001184985.1:c.5830A>G NP_001171914.1:p.Ile1944Val
NM_001184985.2:c.5830A>G NP_001171914.1:p.Ile1944Val
NM_014823.2:c.4309A>G NP_055638.2:p.Ile1437Val
NM_014823.3:c.4309A>G NP_055638.2:p.Ile1437Val
NM_018979.3:c.5050A>G NP_061852.3:p.Ile1684Val
NM_213655.4:c.5806A>G NP_998820.3:p.Ile1936Val
ENST00000315939.10:c.5050A>G ENSP00000313059.6:p.Ile1684Val
ENST00000340908.8:c.5806A>G ENSP00000341292.5:p.Ile1936Val
ENST00000530271.6:c.6289A>G ENSP00000433548.3:p.Ile2097Val
ENST00000535572.5:c.4309A>G ENSP00000441972.1:p.Ile1437Val
ENST00000537687.5:c.5830A>G ENSP00000444465.1:p.Ile1944Val
ENST00000675631.1:c.3829A>G ENSP00000502415.1:p.Ile1277Val
ENST00000676347.1:c.2497A>G ENSP00000501875.1:p.Ile833Val
XM_006719003.1:c.5047A>G XP_006719066.1:p.Ile1683Val
XM_006719003.2:c.5047A>G XP_006719066.1:p.Ile1683Val
XM_011520997.1:c.6289A>G XP_011519299.1:p.Ile2097Val
XM_011520997.3:c.6289A>G XP_011519299.1:p.Ile2097Val
XM_011520998.1:c.6286A>G XP_011519300.1:p.Ile2096Val
XM_011520998.2:c.6286A>G XP_011519300.1:p.Ile2096Val
XM_011520999.1:c.6289A>G XP_011519301.1:p.Ile2097Val
XM_011520999.2:c.6289A>G XP_011519301.1:p.Ile2097Val
XM_011521000.1:c.6289A>G XP_011519302.1:p.Ile2097Val
XM_011521000.2:c.6289A>G XP_011519302.1:p.Ile2097Val
XM_011521001.1:c.6010A>G XP_011519303.1:p.Ile2004Val
XM_011521001.2:c.6010A>G XP_011519303.1:p.Ile2004Val
XM_011521002.1:c.5827A>G XP_011519304.1:p.Ile1943Val
XM_011521002.2:c.5827A>G XP_011519304.1:p.Ile1943Val
XM_011521003.1:c.5551A>G XP_011519305.1:p.Ile1851Val
XM_011521003.2:c.5551A>G XP_011519305.1:p.Ile1851Val
XM_011521004.1:c.5548A>G XP_011519306.1:p.Ile1850Val
XM_011521004.2:c.5548A>G XP_011519306.1:p.Ile1850Val
XM_011521005.1:c.5068A>G XP_011519307.1:p.Ile1690Val
XM_011521005.2:c.5068A>G XP_011519307.1:p.Ile1690Val
XM_011521006.1:c.4966A>G XP_011519308.1:p.Ile1656Val
XM_011521006.2:c.4966A>G XP_011519308.1:p.Ile1656Val
XM_011521007.1:c.4963A>G XP_011519309.1:p.Ile1655Val
XM_011521007.2:c.4963A>G XP_011519309.1:p.Ile1655Val
XM_011521008.1:c.4228A>G XP_011519310.1:p.Ile1410Val
XM_011521008.2:c.4228A>G XP_011519310.1:p.Ile1410Val
XM_011521009.1:c.4225A>G XP_011519311.1:p.Ile1409Val
XM_011521009.2:c.4225A>G XP_011519311.1:p.Ile1409Val
XM_017019834.1:c.4588A>G XP_016875323.1:p.Ile1530Val
XM_017019835.1:c.4507A>G XP_016875324.1:p.Ile1503Val
XM_017019836.1:c.4504A>G XP_016875325.1:p.Ile1502Val
XM_017019837.1:c.4312A>G XP_016875326.1:p.Ile1438Val
XM_017019838.1:c.4309A>G XP_016875327.1:p.Ile1437Val
XM_017019839.1:c.4228A>G XP_016875328.1:p.Ile1410Val