Canonical Allele Identifier: CA231474460

Gene: WNK1

Linked Data

• dbSNP Id: rs1012729
• gnomAD v4: 12-878316-G-C
• MyVariant Identifiers: chr12:g.987482G>C (hg19) ; chr12:g.878316G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.878316G>C , CM000674.2:g.878316G>C	GRCh38
NC_000012.11:g.987482G>C , CM000674.1:g.987482G>C	GRCh37
NC_000012.10:g.857743G>C	NCBI36
NG_007984.2:g.130258G>C
NG_007984.3:g.130258G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315939.11:c.2328G>C MANE Select	ENSP00000313059.6:p.Gln776His
ENST00000340908.9:c.3822G>C MANE Plus Clinical	ENSP00000341292.5:p.Gln1274His
ENST00000674810.1:n.2925G>C
ENST00000675236.1:n.1223G>C
ENST00000675631.1:c.1107G>C	ENSP00000502415.1:p.Gln369His
ENST00000676347.1:c.513G>C	ENSP00000501875.1:p.Gln171His
ENST00000315939.10:c.2328G>C	ENSP00000313059.6:p.Gln776His
ENST00000340908.8:c.3822G>C	ENSP00000341292.5:p.Gln1274His
ENST00000530271.6:c.3567G>C	ENSP00000433548.3:p.Gln1189His
ENST00000535572.5:c.2325G>C	ENSP00000441972.1:p.Gln775His
ENST00000535698.1:c.138G>C	ENSP00000439552.1:p.Gln46His
ENST00000537687.5:c.3567G>C	ENSP00000444465.1:p.Gln1189His
ENST00000542543.1:n.302G>C
ENST00000544965.5:c.295G>C
ENST00000545285.5:c.286G>C
NM_001184985.1:c.3567G>C	NP_001171914.1:p.Gln1189His
NM_014823.2:c.2325G>C	NP_055638.2:p.Gln775His
NM_018979.3:c.2328G>C	NP_061852.3:p.Gln776His
NM_213655.4:c.3822G>C	NP_998820.3:p.Gln1274His
XM_006719003.1:c.2325G>C	XP_006719066.1:p.Gln775His
XM_011520997.1:c.3567G>C	XP_011519299.1:p.Gln1189His
XM_011520998.1:c.3564G>C	XP_011519300.1:p.Gln1188His
XM_011520999.1:c.3567G>C	XP_011519301.1:p.Gln1189His
XM_011521000.1:c.3567G>C	XP_011519302.1:p.Gln1189His
XM_011521001.1:c.3567G>C	XP_011519303.1:p.Gln1189His
XM_011521002.1:c.3564G>C	XP_011519304.1:p.Gln1188His
XM_011521003.1:c.3567G>C	XP_011519305.1:p.Gln1189His
XM_011521004.1:c.3564G>C	XP_011519306.1:p.Gln1188His
XM_011521005.1:c.2346G>C	XP_011519307.1:p.Gln782His
XM_011521006.1:c.2244G>C	XP_011519308.1:p.Gln748His
XM_011521007.1:c.2241G>C	XP_011519309.1:p.Gln747His
XM_011521008.1:c.2244G>C	XP_011519310.1:p.Gln748His
XM_011521009.1:c.2241G>C	XP_011519311.1:p.Gln747His
XM_006719003.2:c.2325G>C	XP_006719066.1:p.Gln775His
XM_011520997.3:c.3567G>C	XP_011519299.1:p.Gln1189His
XM_011520998.2:c.3564G>C	XP_011519300.1:p.Gln1188His
XM_011520999.2:c.3567G>C	XP_011519301.1:p.Gln1189His
XM_011521000.2:c.3567G>C	XP_011519302.1:p.Gln1189His
XM_011521001.2:c.3567G>C	XP_011519303.1:p.Gln1189His
XM_011521002.2:c.3564G>C	XP_011519304.1:p.Gln1188His
XM_011521003.2:c.3567G>C	XP_011519305.1:p.Gln1189His
XM_011521004.2:c.3564G>C	XP_011519306.1:p.Gln1188His
XM_011521005.2:c.2346G>C	XP_011519307.1:p.Gln782His
XM_011521006.2:c.2244G>C	XP_011519308.1:p.Gln748His
XM_011521007.2:c.2241G>C	XP_011519309.1:p.Gln747His
XM_011521008.2:c.2244G>C	XP_011519310.1:p.Gln748His
XM_011521009.2:c.2241G>C	XP_011519311.1:p.Gln747His
XM_017019834.1:c.2325G>C	XP_016875323.1:p.Gln775His
XM_017019835.1:c.2244G>C	XP_016875324.1:p.Gln748His
XM_017019836.1:c.2241G>C	XP_016875325.1:p.Gln747His
XM_017019837.1:c.2328G>C	XP_016875326.1:p.Gln776His
XM_017019838.1:c.2325G>C	XP_016875327.1:p.Gln775His
XM_017019839.1:c.2244G>C	XP_016875328.1:p.Gln748His
NM_018979.4:c.2328G>C MANE Select	NP_061852.3:p.Gln776His
NM_014823.3:c.2325G>C	NP_055638.2:p.Gln775His
NM_001184985.2:c.3567G>C	NP_001171914.1:p.Gln1189His
NM_213655.5:c.3822G>C MANE Plus Clinical	NP_998820.3:p.Gln1274His