Canonical Allele Identifier: CA6382247

Gene: WNK1

Linked Data

• ClinVar Variation Id: 393031
• ClinVar RCV Id: RCV000440555 ; RCV001362619 ; RCV002436361
• dbSNP Id: rs185749579
• ExAC: 12:977470 C / T
• gnomAD v2: 12-977470-C-T
• gnomAD v3: 12-868304-C-T
• gnomAD v4: 12-868304-C-T
• MyVariant Identifiers: chr12:g.977470C>T (hg19) ; chr12:g.868304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.868304C>T , CM000674.2:g.868304C>T	GRCh38
NC_000012.11:g.977470C>T , CM000674.1:g.977470C>T	GRCh37
NC_000012.10:g.847731C>T	NCBI36
NG_007984.2:g.120246C>T
NG_007984.3:g.120246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315939.11:c.2140-2961C>T MANE Select	ENSP00000313059.6:n.2140-2961C>T
ENST00000340908.9:c.2833C>T MANE Plus Clinical	ENSP00000341292.5:p.Arg945Trp
ENST00000675631.1:c.919-2961C>T	ENSP00000502415.1:n.919-2961C>T
ENST00000676347.1:c.408+6034C>T	ENSP00000501875.1:n.408+6034C>T
ENST00000315939.10:c.2140-2961C>T	ENSP00000313059.6:n.2140-2961C>T
ENST00000340908.8:c.2833C>T	ENSP00000341292.5:p.Arg945Trp
ENST00000530271.6:c.2578C>T	ENSP00000433548.3:p.Arg860Trp
ENST00000535572.5:c.2140-2961C>T	ENSP00000441972.1:n.2140-2961C>T
ENST00000535698.1:c.36+6034C>T	ENSP00000439552.1:n.36+6034C>T
ENST00000537687.5:c.2578C>T	ENSP00000444465.1:p.Arg860Trp
ENST00000544965.5:c.190+6034C>T
ENST00000545285.5:c.98-2961C>T
ENST00000574564.1:c.475C>T	ENSP00000460651.1:p.Arg159Trp
NM_001184985.1:c.2578C>T	NP_001171914.1:p.Arg860Trp
NM_014823.2:c.2140-2961C>T	NP_055638.2:n.2140-2961C>T
NM_018979.3:c.2140-2961C>T	NP_061852.3:n.2140-2961C>T
NM_213655.4:c.2833C>T	NP_998820.3:p.Arg945Trp
XM_006719003.1:c.2140-2961C>T	XP_006719066.1:n.2140-2961C>T
XM_011520997.1:c.2578C>T	XP_011519299.1:p.Arg860Trp
XM_011520998.1:c.2578C>T	XP_011519300.1:p.Arg860Trp
XM_011520999.1:c.2578C>T	XP_011519301.1:p.Arg860Trp
XM_011521000.1:c.2578C>T	XP_011519302.1:p.Arg860Trp
XM_011521001.1:c.2578C>T	XP_011519303.1:p.Arg860Trp
XM_011521002.1:c.2578C>T	XP_011519304.1:p.Arg860Trp
XM_011521003.1:c.2578C>T	XP_011519305.1:p.Arg860Trp
XM_011521004.1:c.2578C>T	XP_011519306.1:p.Arg860Trp
XM_011521005.1:c.1357C>T	XP_011519307.1:p.Arg453Trp
XM_011521006.1:c.2139+6034C>T	XP_011519308.1:n.2139+6034C>T
XM_011521007.1:c.2139+6034C>T	XP_011519309.1:n.2139+6034C>T
XM_011521008.1:c.2139+6034C>T	XP_011519310.1:n.2139+6034C>T
XM_011521009.1:c.2139+6034C>T	XP_011519311.1:n.2139+6034C>T
XM_006719003.2:c.2140-2961C>T	XP_006719066.1:n.2140-2961C>T
XM_011520997.3:c.2578C>T	XP_011519299.1:p.Arg860Trp
XM_011520998.2:c.2578C>T	XP_011519300.1:p.Arg860Trp
XM_011520999.2:c.2578C>T	XP_011519301.1:p.Arg860Trp
XM_011521000.2:c.2578C>T	XP_011519302.1:p.Arg860Trp
XM_011521001.2:c.2578C>T	XP_011519303.1:p.Arg860Trp
XM_011521002.2:c.2578C>T	XP_011519304.1:p.Arg860Trp
XM_011521003.2:c.2578C>T	XP_011519305.1:p.Arg860Trp
XM_011521004.2:c.2578C>T	XP_011519306.1:p.Arg860Trp
XM_011521005.2:c.1357C>T	XP_011519307.1:p.Arg453Trp
XM_011521006.2:c.2139+6034C>T	XP_011519308.1:n.2139+6034C>T
XM_011521007.2:c.2139+6034C>T	XP_011519309.1:n.2139+6034C>T
XM_011521008.2:c.2139+6034C>T	XP_011519310.1:n.2139+6034C>T
XM_011521009.2:c.2139+6034C>T	XP_011519311.1:n.2139+6034C>T
XM_017019834.1:c.2140-2961C>T	XP_016875323.1:n.2140-2961C>T
XM_017019835.1:c.2139+6034C>T	XP_016875324.1:n.2139+6034C>T
XM_017019836.1:c.2139+6034C>T	XP_016875325.1:n.2139+6034C>T
XM_017019837.1:c.2140-2961C>T	XP_016875326.1:n.2140-2961C>T
XM_017019838.1:c.2140-2961C>T	XP_016875327.1:n.2140-2961C>T
XM_017019839.1:c.2139+6034C>T	XP_016875328.1:n.2139+6034C>T
NM_018979.4:c.2140-2961C>T MANE Select	NP_061852.3:n.2140-2961C>T
NM_014823.3:c.2140-2961C>T	NP_055638.2:n.2140-2961C>T
NM_001184985.2:c.2578C>T	NP_001171914.1:p.Arg860Trp
NM_213655.5:c.2833C>T MANE Plus Clinical	NP_998820.3:p.Arg945Trp