Canonical Allele Identifier: CA6383224
Community Standard Title: NM_018979.4(WNK1):c.5513C>T (p.Ser1838Phe)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.894565C>T , CM000674.2:g.894565C>T GRCh38
NC_000012.11:g.1003731C>T , CM000674.1:g.1003731C>T GRCh37
NC_000012.10:g.873992C>T NCBI36
NG_007984.2:g.146507C>T
NG_007984.3:g.146507C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5513C>T MANE Select NP_061852.3:p.Ser1838Phe
ENST00000315939.11:c.5513C>T MANE Select ENSP00000313059.6:p.Ser1838Phe
NM_213655.5:c.6269C>T MANE Plus Clinical NP_998820.3:p.Ser2090Phe
ENST00000340908.9:c.6269C>T MANE Plus Clinical ENSP00000341292.5:p.Ser2090Phe
NM_001184985.1:c.6293C>T NP_001171914.1:p.Ser2098Phe
NM_001184985.2:c.6293C>T NP_001171914.1:p.Ser2098Phe
NM_014823.2:c.4769C>T NP_055638.2:p.Ser1590Phe
NM_014823.3:c.4769C>T NP_055638.2:p.Ser1590Phe
NM_018979.3:c.5513C>T NP_061852.3:p.Ser1838Phe
NM_213655.4:c.6269C>T NP_998820.3:p.Ser2090Phe
ENST00000315939.10:c.5513C>T ENSP00000313059.6:p.Ser1838Phe
ENST00000340908.8:c.6269C>T ENSP00000341292.5:p.Ser2090Phe
ENST00000530271.6:c.6752C>T ENSP00000433548.3:p.Ser2251Phe
ENST00000535572.5:c.4769C>T ENSP00000441972.1:p.Ser1590Phe
ENST00000537687.5:c.6293C>T ENSP00000444465.1:p.Ser2098Phe
ENST00000675631.1:c.4292C>T ENSP00000502415.1:p.Ser1431Phe
ENST00000676347.1:c.2960C>T ENSP00000501875.1:p.Ser987Phe
XM_006719003.1:c.5510C>T XP_006719066.1:p.Ser1837Phe
XM_006719003.2:c.5510C>T XP_006719066.1:p.Ser1837Phe
XM_011520997.1:c.6752C>T XP_011519299.1:p.Ser2251Phe
XM_011520997.3:c.6752C>T XP_011519299.1:p.Ser2251Phe
XM_011520998.1:c.6749C>T XP_011519300.1:p.Ser2250Phe
XM_011520998.2:c.6749C>T XP_011519300.1:p.Ser2250Phe
XM_011520999.1:c.6749C>T XP_011519301.1:p.Ser2250Phe
XM_011520999.2:c.6749C>T XP_011519301.1:p.Ser2250Phe
XM_011521000.1:c.6752C>T XP_011519302.1:p.Ser2251Phe
XM_011521000.2:c.6752C>T XP_011519302.1:p.Ser2251Phe
XM_011521001.1:c.6473C>T XP_011519303.1:p.Ser2158Phe
XM_011521001.2:c.6473C>T XP_011519303.1:p.Ser2158Phe
XM_011521002.1:c.6290C>T XP_011519304.1:p.Ser2097Phe
XM_011521002.2:c.6290C>T XP_011519304.1:p.Ser2097Phe
XM_011521003.1:c.6014C>T XP_011519305.1:p.Ser2005Phe
XM_011521003.2:c.6014C>T XP_011519305.1:p.Ser2005Phe
XM_011521004.1:c.6011C>T XP_011519306.1:p.Ser2004Phe
XM_011521004.2:c.6011C>T XP_011519306.1:p.Ser2004Phe
XM_011521005.1:c.5531C>T XP_011519307.1:p.Ser1844Phe
XM_011521005.2:c.5531C>T XP_011519307.1:p.Ser1844Phe
XM_011521006.1:c.5429C>T XP_011519308.1:p.Ser1810Phe
XM_011521006.2:c.5429C>T XP_011519308.1:p.Ser1810Phe
XM_011521007.1:c.5426C>T XP_011519309.1:p.Ser1809Phe
XM_011521007.2:c.5426C>T XP_011519309.1:p.Ser1809Phe
XM_011521008.1:c.4691C>T XP_011519310.1:p.Ser1564Phe
XM_011521008.2:c.4691C>T XP_011519310.1:p.Ser1564Phe
XM_011521009.1:c.4688C>T XP_011519311.1:p.Ser1563Phe
XM_011521009.2:c.4688C>T XP_011519311.1:p.Ser1563Phe
XM_017019834.1:c.5051C>T XP_016875323.1:p.Ser1684Phe
XM_017019835.1:c.4970C>T XP_016875324.1:p.Ser1657Phe
XM_017019836.1:c.4967C>T XP_016875325.1:p.Ser1656Phe
XM_017019837.1:c.4775C>T XP_016875326.1:p.Ser1592Phe
XM_017019838.1:c.4772C>T XP_016875327.1:p.Ser1591Phe
XM_017019839.1:c.4691C>T XP_016875328.1:p.Ser1564Phe