Canonical Allele Identifier: CA383329915
Community Standard Title: NM_018979.4(WNK1):c.3799C>T (p.Arg1267Ter)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.884198C>T , CM000674.2:g.884198C>T GRCh38
NC_000012.11:g.993364C>T , CM000674.1:g.993364C>T GRCh37
NC_000012.10:g.863625C>T NCBI36
NG_007984.2:g.136140C>T
NG_007984.3:g.136140C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.3799C>T MANE Select NP_061852.3:p.Arg1267Ter
ENST00000315939.11:c.3799C>T MANE Select ENSP00000313059.6:p.Arg1267Ter
NM_213655.5:c.4555C>T MANE Plus Clinical NP_998820.3:p.Arg1519Ter
ENST00000340908.9:c.4555C>T MANE Plus Clinical ENSP00000341292.5:p.Arg1519Ter
NM_001184985.1:c.4579C>T NP_001171914.1:p.Arg1527Ter
NM_001184985.2:c.4579C>T NP_001171914.1:p.Arg1527Ter
NM_014823.2:c.3058C>T NP_055638.2:p.Arg1020Ter
NM_014823.3:c.3058C>T NP_055638.2:p.Arg1020Ter
NM_018979.3:c.3799C>T NP_061852.3:p.Arg1267Ter
NM_213655.4:c.4555C>T NP_998820.3:p.Arg1519Ter
ENST00000315939.10:c.3799C>T ENSP00000313059.6:p.Arg1267Ter
ENST00000340908.8:c.4555C>T ENSP00000341292.5:p.Arg1519Ter
ENST00000530271.6:c.5038C>T ENSP00000433548.3:p.Arg1680Ter
ENST00000534872.1:c.499C>T ENSP00000446253.1:p.Arg167Ter
ENST00000535572.5:c.3058C>T ENSP00000441972.1:p.Arg1020Ter
ENST00000537687.5:c.4579C>T ENSP00000444465.1:p.Arg1527Ter
ENST00000674810.1:n.4396C>T
ENST00000675236.1:n.2694C>T
ENST00000675631.1:c.2578C>T ENSP00000502415.1:p.Arg860Ter
ENST00000676347.1:c.1246C>T ENSP00000501875.1:p.Arg416Ter
XM_006719003.1:c.3796C>T XP_006719066.1:p.Arg1266Ter
XM_006719003.2:c.3796C>T XP_006719066.1:p.Arg1266Ter
XM_011520997.1:c.5038C>T XP_011519299.1:p.Arg1680Ter
XM_011520997.3:c.5038C>T XP_011519299.1:p.Arg1680Ter
XM_011520998.1:c.5035C>T XP_011519300.1:p.Arg1679Ter
XM_011520998.2:c.5035C>T XP_011519300.1:p.Arg1679Ter
XM_011520999.1:c.5038C>T XP_011519301.1:p.Arg1680Ter
XM_011520999.2:c.5038C>T XP_011519301.1:p.Arg1680Ter
XM_011521000.1:c.5038C>T XP_011519302.1:p.Arg1680Ter
XM_011521000.2:c.5038C>T XP_011519302.1:p.Arg1680Ter
XM_011521001.1:c.4759C>T XP_011519303.1:p.Arg1587Ter
XM_011521001.2:c.4759C>T XP_011519303.1:p.Arg1587Ter
XM_011521002.1:c.4576C>T XP_011519304.1:p.Arg1526Ter
XM_011521002.2:c.4576C>T XP_011519304.1:p.Arg1526Ter
XM_011521003.1:c.4300C>T XP_011519305.1:p.Arg1434Ter
XM_011521003.2:c.4300C>T XP_011519305.1:p.Arg1434Ter
XM_011521004.1:c.4297C>T XP_011519306.1:p.Arg1433Ter
XM_011521004.2:c.4297C>T XP_011519306.1:p.Arg1433Ter
XM_011521005.1:c.3817C>T XP_011519307.1:p.Arg1273Ter
XM_011521005.2:c.3817C>T XP_011519307.1:p.Arg1273Ter
XM_011521006.1:c.3715C>T XP_011519308.1:p.Arg1239Ter
XM_011521006.2:c.3715C>T XP_011519308.1:p.Arg1239Ter
XM_011521007.1:c.3712C>T XP_011519309.1:p.Arg1238Ter
XM_011521007.2:c.3712C>T XP_011519309.1:p.Arg1238Ter
XM_011521008.1:c.2977C>T XP_011519310.1:p.Arg993Ter
XM_011521008.2:c.2977C>T XP_011519310.1:p.Arg993Ter
XM_011521009.1:c.2974C>T XP_011519311.1:p.Arg992Ter
XM_011521009.2:c.2974C>T XP_011519311.1:p.Arg992Ter
XM_017019834.1:c.3337C>T XP_016875323.1:p.Arg1113Ter
XM_017019835.1:c.3256C>T XP_016875324.1:p.Arg1086Ter
XM_017019836.1:c.3253C>T XP_016875325.1:p.Arg1085Ter
XM_017019837.1:c.3061C>T XP_016875326.1:p.Arg1021Ter
XM_017019838.1:c.3058C>T XP_016875327.1:p.Arg1020Ter
XM_017019839.1:c.2977C>T XP_016875328.1:p.Arg993Ter