Canonical Allele Identifier: CA6383197
Community Standard Title: NM_018979.4(WNK1):c.5463G>A (p.Ala1821=)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.890467G>A , CM000674.2:g.890467G>A GRCh38
NC_000012.11:g.999633G>A , CM000674.1:g.999633G>A GRCh37
NC_000012.10:g.869894G>A NCBI36
NG_007984.2:g.142409G>A
NG_007984.3:g.142409G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5463G>A MANE Select NP_061852.3:p.Ala1821=
ENST00000315939.11:c.5463G>A MANE Select ENSP00000313059.6:p.Ala1821=
NM_213655.5:c.6219G>A MANE Plus Clinical NP_998820.3:p.Ala2073=
ENST00000340908.9:c.6219G>A MANE Plus Clinical ENSP00000341292.5:p.Ala2073=
NM_001184985.1:c.6243G>A NP_001171914.1:p.Ala2081=
NM_001184985.2:c.6243G>A NP_001171914.1:p.Ala2081=
NM_014823.2:c.4722G>A NP_055638.2:p.Ala1574=
NM_014823.3:c.4722G>A NP_055638.2:p.Ala1574=
NM_018979.3:c.5463G>A NP_061852.3:p.Ala1821=
NM_213655.4:c.6219G>A NP_998820.3:p.Ala2073=
ENST00000315939.10:c.5463G>A ENSP00000313059.6:p.Ala1821=
ENST00000340908.8:c.6219G>A ENSP00000341292.5:p.Ala2073=
ENST00000530271.6:c.6702G>A ENSP00000433548.3:p.Ala2234=
ENST00000535572.5:c.4722G>A ENSP00000441972.1:p.Ala1574=
ENST00000537687.5:c.6243G>A ENSP00000444465.1:p.Ala2081=
ENST00000675631.1:c.4242G>A ENSP00000502415.1:p.Ala1414=
ENST00000676347.1:c.2910G>A ENSP00000501875.1:p.Ala970=
XM_006719003.1:c.5460G>A XP_006719066.1:p.Ala1820=
XM_006719003.2:c.5460G>A XP_006719066.1:p.Ala1820=
XM_011520997.1:c.6702G>A XP_011519299.1:p.Ala2234=
XM_011520997.3:c.6702G>A XP_011519299.1:p.Ala2234=
XM_011520998.1:c.6699G>A XP_011519300.1:p.Ala2233=
XM_011520998.2:c.6699G>A XP_011519300.1:p.Ala2233=
XM_011520999.1:c.6702G>A XP_011519301.1:p.Ala2234=
XM_011520999.2:c.6702G>A XP_011519301.1:p.Ala2234=
XM_011521000.1:c.6702G>A XP_011519302.1:p.Ala2234=
XM_011521000.2:c.6702G>A XP_011519302.1:p.Ala2234=
XM_011521001.1:c.6423G>A XP_011519303.1:p.Ala2141=
XM_011521001.2:c.6423G>A XP_011519303.1:p.Ala2141=
XM_011521002.1:c.6240G>A XP_011519304.1:p.Ala2080=
XM_011521002.2:c.6240G>A XP_011519304.1:p.Ala2080=
XM_011521003.1:c.5964G>A XP_011519305.1:p.Ala1988=
XM_011521003.2:c.5964G>A XP_011519305.1:p.Ala1988=
XM_011521004.1:c.5961G>A XP_011519306.1:p.Ala1987=
XM_011521004.2:c.5961G>A XP_011519306.1:p.Ala1987=
XM_011521005.1:c.5481G>A XP_011519307.1:p.Ala1827=
XM_011521005.2:c.5481G>A XP_011519307.1:p.Ala1827=
XM_011521006.1:c.5379G>A XP_011519308.1:p.Ala1793=
XM_011521006.2:c.5379G>A XP_011519308.1:p.Ala1793=
XM_011521007.1:c.5376G>A XP_011519309.1:p.Ala1792=
XM_011521007.2:c.5376G>A XP_011519309.1:p.Ala1792=
XM_011521008.1:c.4641G>A XP_011519310.1:p.Ala1547=
XM_011521008.2:c.4641G>A XP_011519310.1:p.Ala1547=
XM_011521009.1:c.4638G>A XP_011519311.1:p.Ala1546=
XM_011521009.2:c.4638G>A XP_011519311.1:p.Ala1546=
XM_017019834.1:c.5001G>A XP_016875323.1:p.Ala1667=
XM_017019835.1:c.4920G>A XP_016875324.1:p.Ala1640=
XM_017019836.1:c.4917G>A XP_016875325.1:p.Ala1639=
XM_017019837.1:c.4725G>A XP_016875326.1:p.Ala1575=
XM_017019838.1:c.4722G>A XP_016875327.1:p.Ala1574=
XM_017019839.1:c.4641G>A XP_016875328.1:p.Ala1547=