Canonical Allele Identifier: CA383342738
Community Standard Title: NM_018979.4(WNK1):c.2140-2A>G
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.871263A>G , CM000674.2:g.871263A>G GRCh38
NC_000012.11:g.980429A>G , CM000674.1:g.980429A>G GRCh37
NC_000012.10:g.850690A>G NCBI36
NG_007984.2:g.123205A>G
NG_007984.3:g.123205A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.2140-2A>G MANE Select NP_061852.3:n.2140-2A>G
ENST00000315939.11:c.2140-2A>G MANE Select ENSP00000313059.6:n.2140-2A>G
NM_213655.5:c.3634-2A>G MANE Plus Clinical NP_998820.3:n.3634-2A>G
ENST00000340908.9:c.3634-2A>G MANE Plus Clinical ENSP00000341292.5:n.3634-2A>G
NM_001184985.1:c.3379-2A>G NP_001171914.1:n.3379-2A>G
NM_001184985.2:c.3379-2A>G NP_001171914.1:n.3379-2A>G
NM_014823.2:c.2140-2A>G NP_055638.2:n.2140-2A>G
NM_014823.3:c.2140-2A>G NP_055638.2:n.2140-2A>G
NM_018979.3:c.2140-2A>G NP_061852.3:n.2140-2A>G
NM_213655.4:c.3634-2A>G NP_998820.3:n.3634-2A>G
ENST00000315939.10:c.2140-2A>G ENSP00000313059.6:n.2140-2A>G
ENST00000340908.8:c.3634-2A>G ENSP00000341292.5:n.3634-2A>G
ENST00000530271.6:c.3379-2A>G ENSP00000433548.3:n.3379-2A>G
ENST00000535572.5:c.2140-2A>G ENSP00000441972.1:n.2140-2A>G
ENST00000535698.1:c.37-6952A>G ENSP00000439552.1:n.37-6952A>G
ENST00000537687.5:c.3379-2A>G ENSP00000444465.1:n.3379-2A>G
ENST00000544965.5:c.191-6949A>G
ENST00000545285.5:c.98-2A>G
ENST00000574679.1:c.538-2A>G ENSP00000459380.1:n.538-2A>G
ENST00000674810.1:n.2738A>G
ENST00000675631.1:c.919-2A>G ENSP00000502415.1:n.919-2A>G
ENST00000676347.1:c.409-6949A>G ENSP00000501875.1:n.409-6949A>G
XM_006719003.1:c.2140-2A>G XP_006719066.1:n.2140-2A>G
XM_006719003.2:c.2140-2A>G XP_006719066.1:n.2140-2A>G
XM_011520997.1:c.3379-2A>G XP_011519299.1:n.3379-2A>G
XM_011520997.3:c.3379-2A>G XP_011519299.1:n.3379-2A>G
XM_011520998.1:c.3379-2A>G XP_011519300.1:n.3379-2A>G
XM_011520998.2:c.3379-2A>G XP_011519300.1:n.3379-2A>G
XM_011520999.1:c.3379-2A>G XP_011519301.1:n.3379-2A>G
XM_011520999.2:c.3379-2A>G XP_011519301.1:n.3379-2A>G
XM_011521000.1:c.3379-2A>G XP_011519302.1:n.3379-2A>G
XM_011521000.2:c.3379-2A>G XP_011519302.1:n.3379-2A>G
XM_011521001.1:c.3379-2A>G XP_011519303.1:n.3379-2A>G
XM_011521001.2:c.3379-2A>G XP_011519303.1:n.3379-2A>G
XM_011521002.1:c.3379-2A>G XP_011519304.1:n.3379-2A>G
XM_011521002.2:c.3379-2A>G XP_011519304.1:n.3379-2A>G
XM_011521003.1:c.3379-2A>G XP_011519305.1:n.3379-2A>G
XM_011521003.2:c.3379-2A>G XP_011519305.1:n.3379-2A>G
XM_011521004.1:c.3379-2A>G XP_011519306.1:n.3379-2A>G
XM_011521004.2:c.3379-2A>G XP_011519306.1:n.3379-2A>G
XM_011521005.1:c.2158-2A>G XP_011519307.1:n.2158-2A>G
XM_011521005.2:c.2158-2A>G XP_011519307.1:n.2158-2A>G
XM_011521006.1:c.2140-6949A>G XP_011519308.1:n.2140-6949A>G
XM_011521006.2:c.2140-6949A>G XP_011519308.1:n.2140-6949A>G
XM_011521007.1:c.2140-6952A>G XP_011519309.1:n.2140-6952A>G
XM_011521007.2:c.2140-6952A>G XP_011519309.1:n.2140-6952A>G
XM_011521008.1:c.2140-6949A>G XP_011519310.1:n.2140-6949A>G
XM_011521008.2:c.2140-6949A>G XP_011519310.1:n.2140-6949A>G
XM_011521009.1:c.2140-6952A>G XP_011519311.1:n.2140-6952A>G
XM_011521009.2:c.2140-6952A>G XP_011519311.1:n.2140-6952A>G
XM_017019834.1:c.2140-2A>G XP_016875323.1:n.2140-2A>G
XM_017019835.1:c.2140-6949A>G XP_016875324.1:n.2140-6949A>G
XM_017019836.1:c.2140-6952A>G XP_016875325.1:n.2140-6952A>G
XM_017019837.1:c.2140-2A>G XP_016875326.1:n.2140-2A>G
XM_017019838.1:c.2140-2A>G XP_016875327.1:n.2140-2A>G
XM_017019839.1:c.2140-6949A>G XP_016875328.1:n.2140-6949A>G