Canonical Allele Identifier: CA6382716

Gene: WNK1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.881911T>C , CM000674.2:g.881911T>C	GRCh38
NC_000012.11:g.991077T>C , CM000674.1:g.991077T>C	GRCh37
NC_000012.10:g.861338T>C	NCBI36
NG_007984.2:g.133853T>C
NG_007984.3:g.133853T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018979.4:c.3210T>C MANE Select	NP_061852.3:p.Ser1070=
ENST00000315939.11:c.3210T>C MANE Select	ENSP00000313059.6:p.Ser1070=
NM_213655.5:c.3966T>C MANE Plus Clinical	NP_998820.3:p.Ser1322=
ENST00000340908.9:c.3966T>C MANE Plus Clinical	ENSP00000341292.5:p.Ser1322=
NM_001184985.1:c.3990T>C	NP_001171914.1:p.Ser1330=
NM_001184985.2:c.3990T>C	NP_001171914.1:p.Ser1330=
NM_014823.2:c.2469T>C	NP_055638.2:p.Ser823=
NM_014823.3:c.2469T>C	NP_055638.2:p.Ser823=
NM_018979.3:c.3210T>C	NP_061852.3:p.Ser1070=
NM_213655.4:c.3966T>C	NP_998820.3:p.Ser1322=
ENST00000315939.10:c.3210T>C	ENSP00000313059.6:p.Ser1070=
ENST00000340908.8:c.3966T>C	ENSP00000341292.5:p.Ser1322=
ENST00000530271.6:c.4449T>C	ENSP00000433548.3:p.Ser1483=
ENST00000534872.1:c.27T>C	ENSP00000446253.1:p.Ser9=
ENST00000535572.5:c.2469T>C	ENSP00000441972.1:p.Ser823=
ENST00000537687.5:c.3990T>C	ENSP00000444465.1:p.Ser1330=
ENST00000542543.1:n.446T>C
ENST00000544965.5:c.439T>C
ENST00000545055.1:n.320T>C
ENST00000674810.1:n.3807T>C
ENST00000675236.1:n.2105T>C
ENST00000675631.1:c.1989T>C	ENSP00000502415.1:p.Ser663=
ENST00000676347.1:c.657T>C	ENSP00000501875.1:p.Ser219=
XM_006719003.1:c.3207T>C	XP_006719066.1:p.Ser1069=
XM_006719003.2:c.3207T>C	XP_006719066.1:p.Ser1069=
XM_011520997.1:c.4449T>C	XP_011519299.1:p.Ser1483=
XM_011520997.3:c.4449T>C	XP_011519299.1:p.Ser1483=
XM_011520998.1:c.4446T>C	XP_011519300.1:p.Ser1482=
XM_011520998.2:c.4446T>C	XP_011519300.1:p.Ser1482=
XM_011520999.1:c.4449T>C	XP_011519301.1:p.Ser1483=
XM_011520999.2:c.4449T>C	XP_011519301.1:p.Ser1483=
XM_011521000.1:c.4449T>C	XP_011519302.1:p.Ser1483=
XM_011521000.2:c.4449T>C	XP_011519302.1:p.Ser1483=
XM_011521001.1:c.4170T>C	XP_011519303.1:p.Ser1390=
XM_011521001.2:c.4170T>C	XP_011519303.1:p.Ser1390=
XM_011521002.1:c.3987T>C	XP_011519304.1:p.Ser1329=
XM_011521002.2:c.3987T>C	XP_011519304.1:p.Ser1329=
XM_011521003.1:c.3711T>C	XP_011519305.1:p.Ser1237=
XM_011521003.2:c.3711T>C	XP_011519305.1:p.Ser1237=
XM_011521004.1:c.3708T>C	XP_011519306.1:p.Ser1236=
XM_011521004.2:c.3708T>C	XP_011519306.1:p.Ser1236=
XM_011521005.1:c.3228T>C	XP_011519307.1:p.Ser1076=
XM_011521005.2:c.3228T>C	XP_011519307.1:p.Ser1076=
XM_011521006.1:c.3126T>C	XP_011519308.1:p.Ser1042=
XM_011521006.2:c.3126T>C	XP_011519308.1:p.Ser1042=
XM_011521007.1:c.3123T>C	XP_011519309.1:p.Ser1041=
XM_011521007.2:c.3123T>C	XP_011519309.1:p.Ser1041=
XM_011521008.1:c.2388T>C	XP_011519310.1:p.Ser796=
XM_011521008.2:c.2388T>C	XP_011519310.1:p.Ser796=
XM_011521009.1:c.2385T>C	XP_011519311.1:p.Ser795=
XM_011521009.2:c.2385T>C	XP_011519311.1:p.Ser795=
XM_017019834.1:c.2748T>C	XP_016875323.1:p.Ser916=
XM_017019835.1:c.2667T>C	XP_016875324.1:p.Ser889=
XM_017019836.1:c.2664T>C	XP_016875325.1:p.Ser888=
XM_017019837.1:c.2472T>C	XP_016875326.1:p.Ser824=
XM_017019838.1:c.2469T>C	XP_016875327.1:p.Ser823=
XM_017019839.1:c.2388T>C	XP_016875328.1:p.Ser796=