Canonical Allele Identifier: CA6383419
Community Standard Title: NM_018979.4(WNK1):c.6497C>T (p.Thr2166Ile)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.900524C>T , CM000674.2:g.900524C>T GRCh38
NC_000012.11:g.1009690C>T , CM000674.1:g.1009690C>T GRCh37
NC_000012.10:g.879951C>T NCBI36
NG_007984.2:g.152466C>T
NG_007984.3:g.152466C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.6497C>T MANE Select NP_061852.3:p.Thr2166Ile
ENST00000315939.11:c.6497C>T MANE Select ENSP00000313059.6:p.Thr2166Ile
NM_213655.5:c.7253C>T MANE Plus Clinical NP_998820.3:p.Thr2418Ile
ENST00000340908.9:c.7253C>T MANE Plus Clinical ENSP00000341292.5:p.Thr2418Ile
NM_001184985.1:c.7277C>T NP_001171914.1:p.Thr2426Ile
NM_001184985.2:c.7277C>T NP_001171914.1:p.Thr2426Ile
NM_014823.2:c.5753C>T NP_055638.2:p.Thr1918Ile
NM_014823.3:c.5753C>T NP_055638.2:p.Thr1918Ile
NM_018979.3:c.6497C>T NP_061852.3:p.Thr2166Ile
NM_213655.4:c.7253C>T NP_998820.3:p.Thr2418Ile
ENST00000315939.10:c.6497C>T ENSP00000313059.6:p.Thr2166Ile
ENST00000340908.8:c.7253C>T ENSP00000341292.5:p.Thr2418Ile
ENST00000530271.6:c.7736C>T ENSP00000433548.3:p.Thr2579Ile
ENST00000535572.5:c.5753C>T ENSP00000441972.1:p.Thr1918Ile
ENST00000537603.1:n.52C>T
ENST00000537687.5:c.7277C>T ENSP00000444465.1:p.Thr2426Ile
ENST00000542424.1:n.362C>T
ENST00000675631.1:c.5276C>T ENSP00000502415.1:p.Thr1759Ile
ENST00000676347.1:c.3944C>T ENSP00000501875.1:p.Thr1315Ile
XM_006719003.1:c.6494C>T XP_006719066.1:p.Thr2165Ile
XM_006719003.2:c.6494C>T XP_006719066.1:p.Thr2165Ile
XM_011520997.1:c.7736C>T XP_011519299.1:p.Thr2579Ile
XM_011520997.3:c.7736C>T XP_011519299.1:p.Thr2579Ile
XM_011520998.1:c.7733C>T XP_011519300.1:p.Thr2578Ile
XM_011520998.2:c.7733C>T XP_011519300.1:p.Thr2578Ile
XM_011520999.1:c.7733C>T XP_011519301.1:p.Thr2578Ile
XM_011520999.2:c.7733C>T XP_011519301.1:p.Thr2578Ile
XM_011521000.1:c.7687+2843C>T XP_011519302.1:n.7687+2843C>T
XM_011521000.2:c.7687+2843C>T XP_011519302.1:n.7687+2843C>T
XM_011521001.1:c.7457C>T XP_011519303.1:p.Thr2486Ile
XM_011521001.2:c.7457C>T XP_011519303.1:p.Thr2486Ile
XM_011521002.1:c.7274C>T XP_011519304.1:p.Thr2425Ile
XM_011521002.2:c.7274C>T XP_011519304.1:p.Thr2425Ile
XM_011521003.1:c.6998C>T XP_011519305.1:p.Thr2333Ile
XM_011521003.2:c.6998C>T XP_011519305.1:p.Thr2333Ile
XM_011521004.1:c.6995C>T XP_011519306.1:p.Thr2332Ile
XM_011521004.2:c.6995C>T XP_011519306.1:p.Thr2332Ile
XM_011521005.1:c.6515C>T XP_011519307.1:p.Thr2172Ile
XM_011521005.2:c.6515C>T XP_011519307.1:p.Thr2172Ile
XM_011521006.1:c.6413C>T XP_011519308.1:p.Thr2138Ile
XM_011521006.2:c.6413C>T XP_011519308.1:p.Thr2138Ile
XM_011521007.1:c.6410C>T XP_011519309.1:p.Thr2137Ile
XM_011521007.2:c.6410C>T XP_011519309.1:p.Thr2137Ile
XM_011521008.1:c.5675C>T XP_011519310.1:p.Thr1892Ile
XM_011521008.2:c.5675C>T XP_011519310.1:p.Thr1892Ile
XM_011521009.1:c.5672C>T XP_011519311.1:p.Thr1891Ile
XM_011521009.2:c.5672C>T XP_011519311.1:p.Thr1891Ile
XM_017019834.1:c.6035C>T XP_016875323.1:p.Thr2012Ile
XM_017019835.1:c.5954C>T XP_016875324.1:p.Thr1985Ile
XM_017019836.1:c.5951C>T XP_016875325.1:p.Thr1984Ile
XM_017019837.1:c.5759C>T XP_016875326.1:p.Thr1920Ile
XM_017019838.1:c.5756C>T XP_016875327.1:p.Thr1919Ile
XM_017019839.1:c.5626+2843C>T XP_016875328.1:n.5626+2843C>T