Canonical Allele Identifier: CA383338333
Gene: WNK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.900649A>C , CM000674.2:g.900649A>C GRCh38
NC_000012.11:g.1009815A>C , CM000674.1:g.1009815A>C GRCh37
NC_000012.10:g.880076A>C NCBI36
NG_007984.2:g.152591A>C
NG_007984.3:g.152591A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315939.11:c.6622A>C MANE Select ENSP00000313059.6:p.Ser2208Arg
ENST00000340908.9:c.7378A>C MANE Plus Clinical ENSP00000341292.5:p.Ser2460Arg
ENST00000675631.1:c.5401A>C ENSP00000502415.1:p.Ser1801Arg
ENST00000676347.1:c.4069A>C ENSP00000501875.1:p.Ser1357Arg
ENST00000315939.10:c.6622A>C ENSP00000313059.6:p.Ser2208Arg
ENST00000340908.8:c.7378A>C ENSP00000341292.5:p.Ser2460Arg
ENST00000530271.6:c.7861A>C ENSP00000433548.3:p.Ser2621Arg
ENST00000535572.5:c.5878A>C ENSP00000441972.1:p.Ser1960Arg
ENST00000537603.1:n.177A>C
ENST00000537687.5:c.7402A>C ENSP00000444465.1:p.Ser2468Arg
ENST00000542424.1:n.487A>C
ENST00000543065.1:c.52A>C ENSP00000438985.1:p.Ser18Arg
ENST00000544559.1:c.53A>C
NM_001184985.1:c.7402A>C NP_001171914.1:p.Ser2468Arg
NM_014823.2:c.5878A>C NP_055638.2:p.Ser1960Arg
NM_018979.3:c.6622A>C NP_061852.3:p.Ser2208Arg
NM_213655.4:c.7378A>C NP_998820.3:p.Ser2460Arg
XM_006719003.1:c.6619A>C XP_006719066.1:p.Ser2207Arg
XM_011520997.1:c.7861A>C XP_011519299.1:p.Ser2621Arg
XM_011520998.1:c.7858A>C XP_011519300.1:p.Ser2620Arg
XM_011520999.1:c.7858A>C XP_011519301.1:p.Ser2620Arg
XM_011521000.1:c.7687+2968A>C XP_011519302.1:n.7687+2968A>C
XM_011521001.1:c.7582A>C XP_011519303.1:p.Ser2528Arg
XM_011521002.1:c.7399A>C XP_011519304.1:p.Ser2467Arg
XM_011521003.1:c.7123A>C XP_011519305.1:p.Ser2375Arg
XM_011521004.1:c.7120A>C XP_011519306.1:p.Ser2374Arg
XM_011521005.1:c.6640A>C XP_011519307.1:p.Ser2214Arg
XM_011521006.1:c.6538A>C XP_011519308.1:p.Ser2180Arg
XM_011521007.1:c.6535A>C XP_011519309.1:p.Ser2179Arg
XM_011521008.1:c.5800A>C XP_011519310.1:p.Ser1934Arg
XM_011521009.1:c.5797A>C XP_011519311.1:p.Ser1933Arg
XM_006719003.2:c.6619A>C XP_006719066.1:p.Ser2207Arg
XM_011520997.3:c.7861A>C XP_011519299.1:p.Ser2621Arg
XM_011520998.2:c.7858A>C XP_011519300.1:p.Ser2620Arg
XM_011520999.2:c.7858A>C XP_011519301.1:p.Ser2620Arg
XM_011521000.2:c.7687+2968A>C XP_011519302.1:n.7687+2968A>C
XM_011521001.2:c.7582A>C XP_011519303.1:p.Ser2528Arg
XM_011521002.2:c.7399A>C XP_011519304.1:p.Ser2467Arg
XM_011521003.2:c.7123A>C XP_011519305.1:p.Ser2375Arg
XM_011521004.2:c.7120A>C XP_011519306.1:p.Ser2374Arg
XM_011521005.2:c.6640A>C XP_011519307.1:p.Ser2214Arg
XM_011521006.2:c.6538A>C XP_011519308.1:p.Ser2180Arg
XM_011521007.2:c.6535A>C XP_011519309.1:p.Ser2179Arg
XM_011521008.2:c.5800A>C XP_011519310.1:p.Ser1934Arg
XM_011521009.2:c.5797A>C XP_011519311.1:p.Ser1933Arg
XM_017019834.1:c.6160A>C XP_016875323.1:p.Ser2054Arg
XM_017019835.1:c.6079A>C XP_016875324.1:p.Ser2027Arg
XM_017019836.1:c.6076A>C XP_016875325.1:p.Ser2026Arg
XM_017019837.1:c.5884A>C XP_016875326.1:p.Ser1962Arg
XM_017019838.1:c.5881A>C XP_016875327.1:p.Ser1961Arg
XM_017019839.1:c.5626+2968A>C XP_016875328.1:n.5626+2968A>C
NM_018979.4:c.6622A>C MANE Select NP_061852.3:p.Ser2208Arg
NM_014823.3:c.5878A>C NP_055638.2:p.Ser1960Arg
NM_001184985.2:c.7402A>C NP_001171914.1:p.Ser2468Arg
NM_213655.5:c.7378A>C MANE Plus Clinical NP_998820.3:p.Ser2460Arg