Canonical Allele Identifier: CA6382485
Community Standard Title: NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.879658C>G , CM000674.2:g.879658C>G GRCh38
NC_000012.11:g.988824C>G , CM000674.1:g.988824C>G GRCh37
NC_000012.10:g.859085C>G NCBI36
NG_007984.2:g.131600C>G
NG_007984.3:g.131600C>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.2459C>G MANE Select NP_061852.3:p.Ser820Cys
ENST00000315939.11:c.2459C>G MANE Select ENSP00000313059.6:p.Ser820Cys
NM_213655.5:c.3867+1297C>G MANE Plus Clinical NP_998820.3:n.3867+1297C>G
ENST00000340908.9:c.3867+1297C>G MANE Plus Clinical ENSP00000341292.5:n.3867+1297C>G
NM_001184985.1:c.3613-1063C>G NP_001171914.1:n.3613-1063C>G
NM_001184985.2:c.3613-1063C>G NP_001171914.1:n.3613-1063C>G
NM_014823.2:c.2370+1297C>G NP_055638.2:n.2370+1297C>G
NM_014823.3:c.2370+1297C>G NP_055638.2:n.2370+1297C>G
NM_018979.3:c.2459C>G NP_061852.3:p.Ser820Cys
NM_213655.4:c.3867+1297C>G NP_998820.3:n.3867+1297C>G
ENST00000315939.10:c.2459C>G ENSP00000313059.6:p.Ser820Cys
ENST00000340908.8:c.3867+1297C>G ENSP00000341292.5:n.3867+1297C>G
ENST00000530271.6:c.3698C>G ENSP00000433548.3:p.Ser1233Cys
ENST00000535572.5:c.2370+1297C>G ENSP00000441972.1:n.2370+1297C>G
ENST00000535698.1:c.269C>G ENSP00000439552.1:p.Ser90Cys
ENST00000537687.5:c.3613-1063C>G ENSP00000444465.1:n.3613-1063C>G
ENST00000542543.1:n.347+1297C>G
ENST00000544965.5:c.340+1297C>G
ENST00000545285.5:c.332-1063C>G
ENST00000674810.1:n.3056C>G
ENST00000675236.1:n.1354C>G
ENST00000675631.1:c.1238C>G ENSP00000502415.1:p.Ser413Cys
ENST00000676347.1:c.558+1297C>G ENSP00000501875.1:n.558+1297C>G
XM_006719003.1:c.2456C>G XP_006719066.1:p.Ser819Cys
XM_006719003.2:c.2456C>G XP_006719066.1:p.Ser819Cys
XM_011520997.1:c.3698C>G XP_011519299.1:p.Ser1233Cys
XM_011520997.3:c.3698C>G XP_011519299.1:p.Ser1233Cys
XM_011520998.1:c.3695C>G XP_011519300.1:p.Ser1232Cys
XM_011520998.2:c.3695C>G XP_011519300.1:p.Ser1232Cys
XM_011520999.1:c.3698C>G XP_011519301.1:p.Ser1233Cys
XM_011520999.2:c.3698C>G XP_011519301.1:p.Ser1233Cys
XM_011521000.1:c.3698C>G XP_011519302.1:p.Ser1233Cys
XM_011521000.2:c.3698C>G XP_011519302.1:p.Ser1233Cys
XM_011521001.1:c.3698C>G XP_011519303.1:p.Ser1233Cys
XM_011521001.2:c.3698C>G XP_011519303.1:p.Ser1233Cys
XM_011521002.1:c.3610-1063C>G XP_011519304.1:n.3610-1063C>G
XM_011521002.2:c.3610-1063C>G XP_011519304.1:n.3610-1063C>G
XM_011521003.1:c.3612+1297C>G XP_011519305.1:n.3612+1297C>G
XM_011521003.2:c.3612+1297C>G XP_011519305.1:n.3612+1297C>G
XM_011521004.1:c.3609+1297C>G XP_011519306.1:n.3609+1297C>G
XM_011521004.2:c.3609+1297C>G XP_011519306.1:n.3609+1297C>G
XM_011521005.1:c.2477C>G XP_011519307.1:p.Ser826Cys
XM_011521005.2:c.2477C>G XP_011519307.1:p.Ser826Cys
XM_011521006.1:c.2375C>G XP_011519308.1:p.Ser792Cys
XM_011521006.2:c.2375C>G XP_011519308.1:p.Ser792Cys
XM_011521007.1:c.2372C>G XP_011519309.1:p.Ser791Cys
XM_011521007.2:c.2372C>G XP_011519309.1:p.Ser791Cys
XM_011521008.1:c.2289+1297C>G XP_011519310.1:n.2289+1297C>G
XM_011521008.2:c.2289+1297C>G XP_011519310.1:n.2289+1297C>G
XM_011521009.1:c.2286+1297C>G XP_011519311.1:n.2286+1297C>G
XM_011521009.2:c.2286+1297C>G XP_011519311.1:n.2286+1297C>G
XM_017019834.1:c.2371-1063C>G XP_016875323.1:n.2371-1063C>G
XM_017019835.1:c.2290-1063C>G XP_016875324.1:n.2290-1063C>G
XM_017019836.1:c.2287-1063C>G XP_016875325.1:n.2287-1063C>G
XM_017019837.1:c.2373+1297C>G XP_016875326.1:n.2373+1297C>G
XM_017019838.1:c.2370+1297C>G XP_016875327.1:n.2370+1297C>G
XM_017019839.1:c.2289+1297C>G XP_016875328.1:n.2289+1297C>G