Canonical Allele Identifier: CA6382405
Community Standard Title: NM_018979.4(WNK1):c.2187G>A (p.Gly729=)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.871312G>A , CM000674.2:g.871312G>A GRCh38
NC_000012.11:g.980478G>A , CM000674.1:g.980478G>A GRCh37
NC_000012.10:g.850739G>A NCBI36
NG_007984.2:g.123254G>A
NG_007984.3:g.123254G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.2187G>A MANE Select NP_061852.3:p.Gly729=
ENST00000315939.11:c.2187G>A MANE Select ENSP00000313059.6:p.Gly729=
NM_213655.5:c.3681G>A MANE Plus Clinical NP_998820.3:p.Gly1227=
ENST00000340908.9:c.3681G>A MANE Plus Clinical ENSP00000341292.5:p.Gly1227=
NM_001184985.1:c.3426G>A NP_001171914.1:p.Gly1142=
NM_001184985.2:c.3426G>A NP_001171914.1:p.Gly1142=
NM_014823.2:c.2187G>A NP_055638.2:p.Gly729=
NM_014823.3:c.2187G>A NP_055638.2:p.Gly729=
NM_018979.3:c.2187G>A NP_061852.3:p.Gly729=
NM_213655.4:c.3681G>A NP_998820.3:p.Gly1227=
ENST00000315939.10:c.2187G>A ENSP00000313059.6:p.Gly729=
ENST00000340908.8:c.3681G>A ENSP00000341292.5:p.Gly1227=
ENST00000530271.6:c.3426G>A ENSP00000433548.3:p.Gly1142=
ENST00000535572.5:c.2187G>A ENSP00000441972.1:p.Gly729=
ENST00000535698.1:c.37-6903G>A ENSP00000439552.1:n.37-6903G>A
ENST00000537687.5:c.3426G>A ENSP00000444465.1:p.Gly1142=
ENST00000544965.5:c.191-6900G>A
ENST00000545285.5:c.145G>A
ENST00000574679.1:c.585G>A ENSP00000459380.1:p.Gly195=
ENST00000674810.1:n.2787G>A
ENST00000675631.1:c.966G>A ENSP00000502415.1:p.Gly322=
ENST00000676347.1:c.409-6900G>A ENSP00000501875.1:n.409-6900G>A
XM_006719003.1:c.2187G>A XP_006719066.1:p.Gly729=
XM_006719003.2:c.2187G>A XP_006719066.1:p.Gly729=
XM_011520997.1:c.3426G>A XP_011519299.1:p.Gly1142=
XM_011520997.3:c.3426G>A XP_011519299.1:p.Gly1142=
XM_011520998.1:c.3426G>A XP_011519300.1:p.Gly1142=
XM_011520998.2:c.3426G>A XP_011519300.1:p.Gly1142=
XM_011520999.1:c.3426G>A XP_011519301.1:p.Gly1142=
XM_011520999.2:c.3426G>A XP_011519301.1:p.Gly1142=
XM_011521000.1:c.3426G>A XP_011519302.1:p.Gly1142=
XM_011521000.2:c.3426G>A XP_011519302.1:p.Gly1142=
XM_011521001.1:c.3426G>A XP_011519303.1:p.Gly1142=
XM_011521001.2:c.3426G>A XP_011519303.1:p.Gly1142=
XM_011521002.1:c.3426G>A XP_011519304.1:p.Gly1142=
XM_011521002.2:c.3426G>A XP_011519304.1:p.Gly1142=
XM_011521003.1:c.3426G>A XP_011519305.1:p.Gly1142=
XM_011521003.2:c.3426G>A XP_011519305.1:p.Gly1142=
XM_011521004.1:c.3426G>A XP_011519306.1:p.Gly1142=
XM_011521004.2:c.3426G>A XP_011519306.1:p.Gly1142=
XM_011521005.1:c.2205G>A XP_011519307.1:p.Gly735=
XM_011521005.2:c.2205G>A XP_011519307.1:p.Gly735=
XM_011521006.1:c.2140-6900G>A XP_011519308.1:n.2140-6900G>A
XM_011521006.2:c.2140-6900G>A XP_011519308.1:n.2140-6900G>A
XM_011521007.1:c.2140-6903G>A XP_011519309.1:n.2140-6903G>A
XM_011521007.2:c.2140-6903G>A XP_011519309.1:n.2140-6903G>A
XM_011521008.1:c.2140-6900G>A XP_011519310.1:n.2140-6900G>A
XM_011521008.2:c.2140-6900G>A XP_011519310.1:n.2140-6900G>A
XM_011521009.1:c.2140-6903G>A XP_011519311.1:n.2140-6903G>A
XM_011521009.2:c.2140-6903G>A XP_011519311.1:n.2140-6903G>A
XM_017019834.1:c.2187G>A XP_016875323.1:p.Gly729=
XM_017019835.1:c.2140-6900G>A XP_016875324.1:n.2140-6900G>A
XM_017019836.1:c.2140-6903G>A XP_016875325.1:n.2140-6903G>A
XM_017019837.1:c.2187G>A XP_016875326.1:p.Gly729=
XM_017019838.1:c.2187G>A XP_016875327.1:p.Gly729=
XM_017019839.1:c.2140-6900G>A XP_016875328.1:n.2140-6900G>A