Canonical Allele Identifier: CA6383483
Community Standard Title: NM_018979.4(WNK1):c.6717G>A (p.Thr2239=)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.907920G>A , CM000674.2:g.907920G>A GRCh38
NC_000012.11:g.1017086G>A , CM000674.1:g.1017086G>A GRCh37
NC_000012.10:g.887347G>A NCBI36
NG_007984.2:g.159862G>A
NG_007984.3:g.159862G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.6717G>A MANE Select NP_061852.3:p.Thr2239=
ENST00000315939.11:c.6717G>A MANE Select ENSP00000313059.6:p.Thr2239=
NM_213655.5:c.7473G>A MANE Plus Clinical NP_998820.3:p.Thr2491=
ENST00000340908.9:c.7473G>A MANE Plus Clinical ENSP00000341292.5:p.Thr2491=
NM_001184985.1:c.7497G>A NP_001171914.1:p.Thr2499=
NM_001184985.2:c.7497G>A NP_001171914.1:p.Thr2499=
NM_014823.2:c.5973G>A NP_055638.2:p.Thr1991=
NM_014823.3:c.5973G>A NP_055638.2:p.Thr1991=
NM_018979.3:c.6717G>A NP_061852.3:p.Thr2239=
NM_213655.4:c.7473G>A NP_998820.3:p.Thr2491=
ENST00000315939.10:c.6717G>A ENSP00000313059.6:p.Thr2239=
ENST00000340908.8:c.7473G>A ENSP00000341292.5:p.Thr2491=
ENST00000530271.6:c.8070G>A ENSP00000433548.3:p.Thr2690=
ENST00000535572.5:c.5973G>A ENSP00000441972.1:p.Thr1991=
ENST00000537603.1:n.272G>A
ENST00000537687.5:c.7497G>A ENSP00000444465.1:p.Thr2499=
ENST00000540885.1:n.201G>A
ENST00000544559.1:c.190G>A
ENST00000675631.1:c.5496G>A ENSP00000502415.1:p.Thr1832=
ENST00000676347.1:c.4164G>A ENSP00000501875.1:p.Thr1388=
XM_006719003.1:c.6714G>A XP_006719066.1:p.Thr2238=
XM_006719003.2:c.6714G>A XP_006719066.1:p.Thr2238=
XM_011520997.1:c.7956G>A XP_011519299.1:p.Thr2652=
XM_011520997.3:c.7956G>A XP_011519299.1:p.Thr2652=
XM_011520998.1:c.7953G>A XP_011519300.1:p.Thr2651=
XM_011520998.2:c.7953G>A XP_011519300.1:p.Thr2651=
XM_011520999.1:c.7953G>A XP_011519301.1:p.Thr2651=
XM_011520999.2:c.7953G>A XP_011519301.1:p.Thr2651=
XM_011521000.1:c.7761G>A XP_011519302.1:p.Thr2587=
XM_011521000.2:c.7761G>A XP_011519302.1:p.Thr2587=
XM_011521001.1:c.7677G>A XP_011519303.1:p.Thr2559=
XM_011521001.2:c.7677G>A XP_011519303.1:p.Thr2559=
XM_011521002.1:c.7494G>A XP_011519304.1:p.Thr2498=
XM_011521002.2:c.7494G>A XP_011519304.1:p.Thr2498=
XM_011521003.1:c.7218G>A XP_011519305.1:p.Thr2406=
XM_011521003.2:c.7218G>A XP_011519305.1:p.Thr2406=
XM_011521004.1:c.7215G>A XP_011519306.1:p.Thr2405=
XM_011521004.2:c.7215G>A XP_011519306.1:p.Thr2405=
XM_011521005.1:c.6735G>A XP_011519307.1:p.Thr2245=
XM_011521005.2:c.6735G>A XP_011519307.1:p.Thr2245=
XM_011521006.1:c.6633G>A XP_011519308.1:p.Thr2211=
XM_011521006.2:c.6633G>A XP_011519308.1:p.Thr2211=
XM_011521007.1:c.6630G>A XP_011519309.1:p.Thr2210=
XM_011521007.2:c.6630G>A XP_011519309.1:p.Thr2210=
XM_011521008.1:c.5895G>A XP_011519310.1:p.Thr1965=
XM_011521008.2:c.5895G>A XP_011519310.1:p.Thr1965=
XM_011521009.1:c.5892G>A XP_011519311.1:p.Thr1964=
XM_011521009.2:c.5892G>A XP_011519311.1:p.Thr1964=
XM_017019834.1:c.6255G>A XP_016875323.1:p.Thr2085=
XM_017019835.1:c.6174G>A XP_016875324.1:p.Thr2058=
XM_017019836.1:c.6171G>A XP_016875325.1:p.Thr2057=
XM_017019837.1:c.5979G>A XP_016875326.1:p.Thr1993=
XM_017019838.1:c.5976G>A XP_016875327.1:p.Thr1992=
XM_017019839.1:c.5700G>A XP_016875328.1:p.Thr1900=