Canonical Allele Identifier: CA383325652

Gene: WNK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.878254C>T , CM000674.2:g.878254C>T	GRCh38
NC_000012.11:g.987420C>T , CM000674.1:g.987420C>T	GRCh37
NC_000012.10:g.857681C>T	NCBI36
NG_007984.2:g.130196C>T
NG_007984.3:g.130196C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018979.4:c.2266C>T MANE Select	NP_061852.3:p.Gln756Ter
ENST00000315939.11:c.2266C>T MANE Select	ENSP00000313059.6:p.Gln756Ter
NM_213655.5:c.3760C>T MANE Plus Clinical	NP_998820.3:p.Gln1254Ter
ENST00000340908.9:c.3760C>T MANE Plus Clinical	ENSP00000341292.5:p.Gln1254Ter
NM_001184985.1:c.3505C>T	NP_001171914.1:p.Gln1169Ter
NM_001184985.2:c.3505C>T	NP_001171914.1:p.Gln1169Ter
NM_014823.2:c.2263C>T	NP_055638.2:p.Gln755Ter
NM_014823.3:c.2263C>T	NP_055638.2:p.Gln755Ter
NM_018979.3:c.2266C>T	NP_061852.3:p.Gln756Ter
NM_213655.4:c.3760C>T	NP_998820.3:p.Gln1254Ter
ENST00000315939.10:c.2266C>T	ENSP00000313059.6:p.Gln756Ter
ENST00000340908.8:c.3760C>T	ENSP00000341292.5:p.Gln1254Ter
ENST00000530271.6:c.3505C>T	ENSP00000433548.3:p.Gln1169Ter
ENST00000535572.5:c.2263C>T	ENSP00000441972.1:p.Gln755Ter
ENST00000535698.1:c.76C>T	ENSP00000439552.1:p.Gln26Ter
ENST00000537687.5:c.3505C>T	ENSP00000444465.1:p.Gln1169Ter
ENST00000542543.1:n.240C>T
ENST00000544965.5:c.233C>T
ENST00000545285.5:c.224C>T
ENST00000574679.1:c.664C>T	ENSP00000459380.1:p.Gln222Ter
ENST00000674810.1:n.2863C>T
ENST00000675236.1:n.1161C>T
ENST00000675631.1:c.1045C>T	ENSP00000502415.1:p.Gln349Ter
ENST00000676347.1:c.451C>T	ENSP00000501875.1:p.Gln151Ter
XM_006719003.1:c.2263C>T	XP_006719066.1:p.Gln755Ter
XM_006719003.2:c.2263C>T	XP_006719066.1:p.Gln755Ter
XM_011520997.1:c.3505C>T	XP_011519299.1:p.Gln1169Ter
XM_011520997.3:c.3505C>T	XP_011519299.1:p.Gln1169Ter
XM_011520998.1:c.3502C>T	XP_011519300.1:p.Gln1168Ter
XM_011520998.2:c.3502C>T	XP_011519300.1:p.Gln1168Ter
XM_011520999.1:c.3505C>T	XP_011519301.1:p.Gln1169Ter
XM_011520999.2:c.3505C>T	XP_011519301.1:p.Gln1169Ter
XM_011521000.1:c.3505C>T	XP_011519302.1:p.Gln1169Ter
XM_011521000.2:c.3505C>T	XP_011519302.1:p.Gln1169Ter
XM_011521001.1:c.3505C>T	XP_011519303.1:p.Gln1169Ter
XM_011521001.2:c.3505C>T	XP_011519303.1:p.Gln1169Ter
XM_011521002.1:c.3502C>T	XP_011519304.1:p.Gln1168Ter
XM_011521002.2:c.3502C>T	XP_011519304.1:p.Gln1168Ter
XM_011521003.1:c.3505C>T	XP_011519305.1:p.Gln1169Ter
XM_011521003.2:c.3505C>T	XP_011519305.1:p.Gln1169Ter
XM_011521004.1:c.3502C>T	XP_011519306.1:p.Gln1168Ter
XM_011521004.2:c.3502C>T	XP_011519306.1:p.Gln1168Ter
XM_011521005.1:c.2284C>T	XP_011519307.1:p.Gln762Ter
XM_011521005.2:c.2284C>T	XP_011519307.1:p.Gln762Ter
XM_011521006.1:c.2182C>T	XP_011519308.1:p.Gln728Ter
XM_011521006.2:c.2182C>T	XP_011519308.1:p.Gln728Ter
XM_011521007.1:c.2179C>T	XP_011519309.1:p.Gln727Ter
XM_011521007.2:c.2179C>T	XP_011519309.1:p.Gln727Ter
XM_011521008.1:c.2182C>T	XP_011519310.1:p.Gln728Ter
XM_011521008.2:c.2182C>T	XP_011519310.1:p.Gln728Ter
XM_011521009.1:c.2179C>T	XP_011519311.1:p.Gln727Ter
XM_011521009.2:c.2179C>T	XP_011519311.1:p.Gln727Ter
XM_017019834.1:c.2263C>T	XP_016875323.1:p.Gln755Ter
XM_017019835.1:c.2182C>T	XP_016875324.1:p.Gln728Ter
XM_017019836.1:c.2179C>T	XP_016875325.1:p.Gln727Ter
XM_017019837.1:c.2266C>T	XP_016875326.1:p.Gln756Ter
XM_017019838.1:c.2263C>T	XP_016875327.1:p.Gln755Ter
XM_017019839.1:c.2182C>T	XP_016875328.1:p.Gln728Ter