Canonical Allele Identifier: CA117301
Gene: WNK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5166
dbSNP Id: rs111033590
gnomAD v2: 12-977938-C-T
gnomAD v4: 12-868772-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.868772C>T , CM000674.2:g.868772C>T GRCh38
NC_000012.11:g.977938C>T , CM000674.1:g.977938C>T GRCh37
NC_000012.10:g.848199C>T NCBI36
NG_007984.2:g.120714C>T
NG_007984.3:g.120714C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000315939.11:c.2140-2493C>T MANE Select ENSP00000313059.6:n.2140-2493C>T
ENST00000340908.9:c.3301C>T MANE Plus Clinical ENSP00000341292.5:p.Gln1101Ter
ENST00000674810.1:n.247C>T
ENST00000675631.1:c.919-2493C>T ENSP00000502415.1:n.919-2493C>T
ENST00000676347.1:c.408+6502C>T ENSP00000501875.1:n.408+6502C>T
ENST00000315939.10:c.2140-2493C>T ENSP00000313059.6:n.2140-2493C>T
ENST00000340908.8:c.3301C>T ENSP00000341292.5:p.Gln1101Ter
ENST00000530271.6:c.3046C>T ENSP00000433548.3:p.Gln1016Ter
ENST00000535572.5:c.2140-2493C>T ENSP00000441972.1:n.2140-2493C>T
ENST00000535698.1:c.36+6502C>T ENSP00000439552.1:n.36+6502C>T
ENST00000537687.5:c.3046C>T ENSP00000444465.1:p.Gln1016Ter
ENST00000544965.5:c.190+6502C>T
ENST00000545285.5:c.98-2493C>T
ENST00000574564.1:c.943C>T ENSP00000460651.1:p.Gln315Ter
ENST00000574679.1:c.205C>T ENSP00000459380.1:p.Gln69Ter
NM_001184985.1:c.3046C>T NP_001171914.1:p.Gln1016Ter
NM_014823.2:c.2140-2493C>T NP_055638.2:n.2140-2493C>T
NM_018979.3:c.2140-2493C>T NP_061852.3:n.2140-2493C>T
NM_213655.4:c.3301C>T NP_998820.3:p.Gln1101Ter
XM_006719003.1:c.2140-2493C>T XP_006719066.1:n.2140-2493C>T
XM_011520997.1:c.3046C>T XP_011519299.1:p.Gln1016Ter
XM_011520998.1:c.3046C>T XP_011519300.1:p.Gln1016Ter
XM_011520999.1:c.3046C>T XP_011519301.1:p.Gln1016Ter
XM_011521000.1:c.3046C>T XP_011519302.1:p.Gln1016Ter
XM_011521001.1:c.3046C>T XP_011519303.1:p.Gln1016Ter
XM_011521002.1:c.3046C>T XP_011519304.1:p.Gln1016Ter
XM_011521003.1:c.3046C>T XP_011519305.1:p.Gln1016Ter
XM_011521004.1:c.3046C>T XP_011519306.1:p.Gln1016Ter
XM_011521005.1:c.1825C>T XP_011519307.1:p.Gln609Ter
XM_011521006.1:c.2139+6502C>T XP_011519308.1:n.2139+6502C>T
XM_011521007.1:c.2139+6502C>T XP_011519309.1:n.2139+6502C>T
XM_011521008.1:c.2139+6502C>T XP_011519310.1:n.2139+6502C>T
XM_011521009.1:c.2139+6502C>T XP_011519311.1:n.2139+6502C>T
XM_006719003.2:c.2140-2493C>T XP_006719066.1:n.2140-2493C>T
XM_011520997.3:c.3046C>T XP_011519299.1:p.Gln1016Ter
XM_011520998.2:c.3046C>T XP_011519300.1:p.Gln1016Ter
XM_011520999.2:c.3046C>T XP_011519301.1:p.Gln1016Ter
XM_011521000.2:c.3046C>T XP_011519302.1:p.Gln1016Ter
XM_011521001.2:c.3046C>T XP_011519303.1:p.Gln1016Ter
XM_011521002.2:c.3046C>T XP_011519304.1:p.Gln1016Ter
XM_011521003.2:c.3046C>T XP_011519305.1:p.Gln1016Ter
XM_011521004.2:c.3046C>T XP_011519306.1:p.Gln1016Ter
XM_011521005.2:c.1825C>T XP_011519307.1:p.Gln609Ter
XM_011521006.2:c.2139+6502C>T XP_011519308.1:n.2139+6502C>T
XM_011521007.2:c.2139+6502C>T XP_011519309.1:n.2139+6502C>T
XM_011521008.2:c.2139+6502C>T XP_011519310.1:n.2139+6502C>T
XM_011521009.2:c.2139+6502C>T XP_011519311.1:n.2139+6502C>T
XM_017019834.1:c.2140-2493C>T XP_016875323.1:n.2140-2493C>T
XM_017019835.1:c.2139+6502C>T XP_016875324.1:n.2139+6502C>T
XM_017019836.1:c.2139+6502C>T XP_016875325.1:n.2139+6502C>T
XM_017019837.1:c.2140-2493C>T XP_016875326.1:n.2140-2493C>T
XM_017019838.1:c.2140-2493C>T XP_016875327.1:n.2140-2493C>T
XM_017019839.1:c.2139+6502C>T XP_016875328.1:n.2139+6502C>T
NM_018979.4:c.2140-2493C>T MANE Select NP_061852.3:n.2140-2493C>T
NM_014823.3:c.2140-2493C>T NP_055638.2:n.2140-2493C>T
NM_001184985.2:c.3046C>T NP_001171914.1:p.Gln1016Ter
NM_213655.5:c.3301C>T MANE Plus Clinical NP_998820.3:p.Gln1101Ter