Canonical Allele Identifier: CA6383545
Community Standard Title: NM_018979.4(WNK1):c.7008A>G (p.Gln2336=)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.908651A>G , CM000674.2:g.908651A>G GRCh38
NC_000012.11:g.1017817A>G , CM000674.1:g.1017817A>G GRCh37
NC_000012.10:g.888078A>G NCBI36
NG_007984.2:g.160593A>G
NG_007984.3:g.160593A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.7008A>G MANE Select NP_061852.3:p.Gln2336=
ENST00000315939.11:c.7008A>G MANE Select ENSP00000313059.6:p.Gln2336=
NM_213655.5:c.7764A>G MANE Plus Clinical NP_998820.3:p.Gln2588=
ENST00000340908.9:c.7764A>G MANE Plus Clinical ENSP00000341292.5:p.Gln2588=
NM_001184985.1:c.7788A>G NP_001171914.1:p.Gln2596=
NM_001184985.2:c.7788A>G NP_001171914.1:p.Gln2596=
NM_014823.2:c.6264A>G NP_055638.2:p.Gln2088=
NM_014823.3:c.6264A>G NP_055638.2:p.Gln2088=
NM_018979.3:c.7008A>G NP_061852.3:p.Gln2336=
NM_213655.4:c.7764A>G NP_998820.3:p.Gln2588=
ENST00000315939.10:c.7008A>G ENSP00000313059.6:p.Gln2336=
ENST00000340908.8:c.7764A>G ENSP00000341292.5:p.Gln2588=
ENST00000530271.6:c.8361A>G ENSP00000433548.3:p.Gln2787=
ENST00000535572.5:c.6264A>G ENSP00000441972.1:p.Gln2088=
ENST00000537687.5:c.7788A>G ENSP00000444465.1:p.Gln2596=
ENST00000540885.1:n.492A>G
ENST00000675631.1:c.5787A>G ENSP00000502415.1:p.Gln1929=
ENST00000676347.1:c.4455A>G ENSP00000501875.1:p.Gln1485=
XM_006719003.1:c.7005A>G XP_006719066.1:p.Gln2335=
XM_006719003.2:c.7005A>G XP_006719066.1:p.Gln2335=
XM_011520997.1:c.8247A>G XP_011519299.1:p.Gln2749=
XM_011520997.3:c.8247A>G XP_011519299.1:p.Gln2749=
XM_011520998.1:c.8244A>G XP_011519300.1:p.Gln2748=
XM_011520998.2:c.8244A>G XP_011519300.1:p.Gln2748=
XM_011520999.1:c.8244A>G XP_011519301.1:p.Gln2748=
XM_011520999.2:c.8244A>G XP_011519301.1:p.Gln2748=
XM_011521000.1:c.8052A>G XP_011519302.1:p.Gln2684=
XM_011521000.2:c.8052A>G XP_011519302.1:p.Gln2684=
XM_011521001.1:c.7968A>G XP_011519303.1:p.Gln2656=
XM_011521001.2:c.7968A>G XP_011519303.1:p.Gln2656=
XM_011521002.1:c.7785A>G XP_011519304.1:p.Gln2595=
XM_011521002.2:c.7785A>G XP_011519304.1:p.Gln2595=
XM_011521003.1:c.7509A>G XP_011519305.1:p.Gln2503=
XM_011521003.2:c.7509A>G XP_011519305.1:p.Gln2503=
XM_011521004.1:c.7506A>G XP_011519306.1:p.Gln2502=
XM_011521004.2:c.7506A>G XP_011519306.1:p.Gln2502=
XM_011521005.1:c.7026A>G XP_011519307.1:p.Gln2342=
XM_011521005.2:c.7026A>G XP_011519307.1:p.Gln2342=
XM_011521006.1:c.6924A>G XP_011519308.1:p.Gln2308=
XM_011521006.2:c.6924A>G XP_011519308.1:p.Gln2308=
XM_011521007.1:c.6921A>G XP_011519309.1:p.Gln2307=
XM_011521007.2:c.6921A>G XP_011519309.1:p.Gln2307=
XM_011521008.1:c.6186A>G XP_011519310.1:p.Gln2062=
XM_011521008.2:c.6186A>G XP_011519310.1:p.Gln2062=
XM_011521009.1:c.6183A>G XP_011519311.1:p.Gln2061=
XM_011521009.2:c.6183A>G XP_011519311.1:p.Gln2061=
XM_017019834.1:c.6546A>G XP_016875323.1:p.Gln2182=
XM_017019835.1:c.6465A>G XP_016875324.1:p.Gln2155=
XM_017019836.1:c.6462A>G XP_016875325.1:p.Gln2154=
XM_017019837.1:c.6270A>G XP_016875326.1:p.Gln2090=
XM_017019838.1:c.6267A>G XP_016875327.1:p.Gln2089=
XM_017019839.1:c.5991A>G XP_016875328.1:p.Gln1997=