Canonical Allele Identifier: CA6382898
Community Standard Title: NM_018979.4(WNK1):c.3935G>A (p.Arg1312His)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.884739G>A , CM000674.2:g.884739G>A GRCh38
NC_000012.11:g.993905G>A , CM000674.1:g.993905G>A GRCh37
NC_000012.10:g.864166G>A NCBI36
NG_007984.2:g.136681G>A
NG_007984.3:g.136681G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.3935G>A MANE Select NP_061852.3:p.Arg1312His
ENST00000315939.11:c.3935G>A MANE Select ENSP00000313059.6:p.Arg1312His
NM_213655.5:c.4691G>A MANE Plus Clinical NP_998820.3:p.Arg1564His
ENST00000340908.9:c.4691G>A MANE Plus Clinical ENSP00000341292.5:p.Arg1564His
NM_001184985.1:c.4715G>A NP_001171914.1:p.Arg1572His
NM_001184985.2:c.4715G>A NP_001171914.1:p.Arg1572His
NM_014823.2:c.3194G>A NP_055638.2:p.Arg1065His
NM_014823.3:c.3194G>A NP_055638.2:p.Arg1065His
NM_018979.3:c.3935G>A NP_061852.3:p.Arg1312His
NM_213655.4:c.4691G>A NP_998820.3:p.Arg1564His
ENST00000315939.10:c.3935G>A ENSP00000313059.6:p.Arg1312His
ENST00000340908.8:c.4691G>A ENSP00000341292.5:p.Arg1564His
ENST00000530271.6:c.5174G>A ENSP00000433548.3:p.Arg1725His
ENST00000535572.5:c.3194G>A ENSP00000441972.1:p.Arg1065His
ENST00000537687.5:c.4715G>A ENSP00000444465.1:p.Arg1572His
ENST00000674810.1:n.4532G>A
ENST00000675236.1:n.2830G>A
ENST00000675631.1:c.2714G>A ENSP00000502415.1:p.Arg905His
ENST00000676347.1:c.1382G>A ENSP00000501875.1:p.Arg461His
XM_006719003.1:c.3932G>A XP_006719066.1:p.Arg1311His
XM_006719003.2:c.3932G>A XP_006719066.1:p.Arg1311His
XM_011520997.1:c.5174G>A XP_011519299.1:p.Arg1725His
XM_011520997.3:c.5174G>A XP_011519299.1:p.Arg1725His
XM_011520998.1:c.5171G>A XP_011519300.1:p.Arg1724His
XM_011520998.2:c.5171G>A XP_011519300.1:p.Arg1724His
XM_011520999.1:c.5174G>A XP_011519301.1:p.Arg1725His
XM_011520999.2:c.5174G>A XP_011519301.1:p.Arg1725His
XM_011521000.1:c.5174G>A XP_011519302.1:p.Arg1725His
XM_011521000.2:c.5174G>A XP_011519302.1:p.Arg1725His
XM_011521001.1:c.4895G>A XP_011519303.1:p.Arg1632His
XM_011521001.2:c.4895G>A XP_011519303.1:p.Arg1632His
XM_011521002.1:c.4712G>A XP_011519304.1:p.Arg1571His
XM_011521002.2:c.4712G>A XP_011519304.1:p.Arg1571His
XM_011521003.1:c.4436G>A XP_011519305.1:p.Arg1479His
XM_011521003.2:c.4436G>A XP_011519305.1:p.Arg1479His
XM_011521004.1:c.4433G>A XP_011519306.1:p.Arg1478His
XM_011521004.2:c.4433G>A XP_011519306.1:p.Arg1478His
XM_011521005.1:c.3953G>A XP_011519307.1:p.Arg1318His
XM_011521005.2:c.3953G>A XP_011519307.1:p.Arg1318His
XM_011521006.1:c.3851G>A XP_011519308.1:p.Arg1284His
XM_011521006.2:c.3851G>A XP_011519308.1:p.Arg1284His
XM_011521007.1:c.3848G>A XP_011519309.1:p.Arg1283His
XM_011521007.2:c.3848G>A XP_011519309.1:p.Arg1283His
XM_011521008.1:c.3113G>A XP_011519310.1:p.Arg1038His
XM_011521008.2:c.3113G>A XP_011519310.1:p.Arg1038His
XM_011521009.1:c.3110G>A XP_011519311.1:p.Arg1037His
XM_011521009.2:c.3110G>A XP_011519311.1:p.Arg1037His
XM_017019834.1:c.3473G>A XP_016875323.1:p.Arg1158His
XM_017019835.1:c.3392G>A XP_016875324.1:p.Arg1131His
XM_017019836.1:c.3389G>A XP_016875325.1:p.Arg1130His
XM_017019837.1:c.3197G>A XP_016875326.1:p.Arg1066His
XM_017019838.1:c.3194G>A XP_016875327.1:p.Arg1065His
XM_017019839.1:c.3113G>A XP_016875328.1:p.Arg1038His