Canonical Allele Identifier: CA231477837
Community Standard Title: NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.882032C>T , CM000674.2:g.882032C>T GRCh38
NC_000012.11:g.991198C>T , CM000674.1:g.991198C>T GRCh37
NC_000012.10:g.861459C>T NCBI36
NG_007984.2:g.133974C>T
NG_007984.3:g.133974C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.3331C>T MANE Select NP_061852.3:p.Arg1111Ter
ENST00000315939.11:c.3331C>T MANE Select ENSP00000313059.6:p.Arg1111Ter
NM_213655.5:c.4087C>T MANE Plus Clinical NP_998820.3:p.Arg1363Ter
ENST00000340908.9:c.4087C>T MANE Plus Clinical ENSP00000341292.5:p.Arg1363Ter
NM_001184985.1:c.4111C>T NP_001171914.1:p.Arg1371Ter
NM_001184985.2:c.4111C>T NP_001171914.1:p.Arg1371Ter
NM_014823.2:c.2590C>T NP_055638.2:p.Arg864Ter
NM_014823.3:c.2590C>T NP_055638.2:p.Arg864Ter
NM_018979.3:c.3331C>T NP_061852.3:p.Arg1111Ter
NM_213655.4:c.4087C>T NP_998820.3:p.Arg1363Ter
ENST00000315939.10:c.3331C>T ENSP00000313059.6:p.Arg1111Ter
ENST00000340908.8:c.4087C>T ENSP00000341292.5:p.Arg1363Ter
ENST00000530271.6:c.4570C>T ENSP00000433548.3:p.Arg1524Ter
ENST00000534872.1:c.148C>T ENSP00000446253.1:p.Arg50Ter
ENST00000535572.5:c.2590C>T ENSP00000441972.1:p.Arg864Ter
ENST00000537687.5:c.4111C>T ENSP00000444465.1:p.Arg1371Ter
ENST00000544965.5:c.560C>T
ENST00000545055.1:n.441C>T
ENST00000674810.1:n.3928C>T
ENST00000675236.1:n.2226C>T
ENST00000675631.1:c.2110C>T ENSP00000502415.1:p.Arg704Ter
ENST00000676347.1:c.778C>T ENSP00000501875.1:p.Arg260Ter
XM_006719003.1:c.3328C>T XP_006719066.1:p.Arg1110Ter
XM_006719003.2:c.3328C>T XP_006719066.1:p.Arg1110Ter
XM_011520997.1:c.4570C>T XP_011519299.1:p.Arg1524Ter
XM_011520997.3:c.4570C>T XP_011519299.1:p.Arg1524Ter
XM_011520998.1:c.4567C>T XP_011519300.1:p.Arg1523Ter
XM_011520998.2:c.4567C>T XP_011519300.1:p.Arg1523Ter
XM_011520999.1:c.4570C>T XP_011519301.1:p.Arg1524Ter
XM_011520999.2:c.4570C>T XP_011519301.1:p.Arg1524Ter
XM_011521000.1:c.4570C>T XP_011519302.1:p.Arg1524Ter
XM_011521000.2:c.4570C>T XP_011519302.1:p.Arg1524Ter
XM_011521001.1:c.4291C>T XP_011519303.1:p.Arg1431Ter
XM_011521001.2:c.4291C>T XP_011519303.1:p.Arg1431Ter
XM_011521002.1:c.4108C>T XP_011519304.1:p.Arg1370Ter
XM_011521002.2:c.4108C>T XP_011519304.1:p.Arg1370Ter
XM_011521003.1:c.3832C>T XP_011519305.1:p.Arg1278Ter
XM_011521003.2:c.3832C>T XP_011519305.1:p.Arg1278Ter
XM_011521004.1:c.3829C>T XP_011519306.1:p.Arg1277Ter
XM_011521004.2:c.3829C>T XP_011519306.1:p.Arg1277Ter
XM_011521005.1:c.3349C>T XP_011519307.1:p.Arg1117Ter
XM_011521005.2:c.3349C>T XP_011519307.1:p.Arg1117Ter
XM_011521006.1:c.3247C>T XP_011519308.1:p.Arg1083Ter
XM_011521006.2:c.3247C>T XP_011519308.1:p.Arg1083Ter
XM_011521007.1:c.3244C>T XP_011519309.1:p.Arg1082Ter
XM_011521007.2:c.3244C>T XP_011519309.1:p.Arg1082Ter
XM_011521008.1:c.2509C>T XP_011519310.1:p.Arg837Ter
XM_011521008.2:c.2509C>T XP_011519310.1:p.Arg837Ter
XM_011521009.1:c.2506C>T XP_011519311.1:p.Arg836Ter
XM_011521009.2:c.2506C>T XP_011519311.1:p.Arg836Ter
XM_017019834.1:c.2869C>T XP_016875323.1:p.Arg957Ter
XM_017019835.1:c.2788C>T XP_016875324.1:p.Arg930Ter
XM_017019836.1:c.2785C>T XP_016875325.1:p.Arg929Ter
XM_017019837.1:c.2593C>T XP_016875326.1:p.Arg865Ter
XM_017019838.1:c.2590C>T XP_016875327.1:p.Arg864Ter
XM_017019839.1:c.2509C>T XP_016875328.1:p.Arg837Ter