Canonical Allele Identifier: CA6382765
Community Standard Title: NM_018979.4(WNK1):c.3468C>G (p.Pro1156=)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.883038C>G , CM000674.2:g.883038C>G GRCh38
NC_000012.11:g.992204C>G , CM000674.1:g.992204C>G GRCh37
NC_000012.10:g.862465C>G NCBI36
NG_007984.2:g.134980C>G
NG_007984.3:g.134980C>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.3468C>G MANE Select NP_061852.3:p.Pro1156=
ENST00000315939.11:c.3468C>G MANE Select ENSP00000313059.6:p.Pro1156=
NM_213655.5:c.4224C>G MANE Plus Clinical NP_998820.3:p.Pro1408=
ENST00000340908.9:c.4224C>G MANE Plus Clinical ENSP00000341292.5:p.Pro1408=
NM_001184985.1:c.4248C>G NP_001171914.1:p.Pro1416=
NM_001184985.2:c.4248C>G NP_001171914.1:p.Pro1416=
NM_014823.2:c.2727C>G NP_055638.2:p.Pro909=
NM_014823.3:c.2727C>G NP_055638.2:p.Pro909=
NM_018979.3:c.3468C>G NP_061852.3:p.Pro1156=
NM_213655.4:c.4224C>G NP_998820.3:p.Pro1408=
ENST00000315939.10:c.3468C>G ENSP00000313059.6:p.Pro1156=
ENST00000340908.8:c.4224C>G ENSP00000341292.5:p.Pro1408=
ENST00000530271.6:c.4707C>G ENSP00000433548.3:p.Pro1569=
ENST00000534872.1:c.190-357C>G ENSP00000446253.1:n.190-357C>G
ENST00000535572.5:c.2727C>G ENSP00000441972.1:p.Pro909=
ENST00000537687.5:c.4248C>G ENSP00000444465.1:p.Pro1416=
ENST00000545055.1:n.578C>G
ENST00000674810.1:n.4065C>G
ENST00000675236.1:n.2363C>G
ENST00000675631.1:c.2247C>G ENSP00000502415.1:p.Pro749=
ENST00000676347.1:c.915C>G ENSP00000501875.1:p.Pro305=
XM_006719003.1:c.3465C>G XP_006719066.1:p.Pro1155=
XM_006719003.2:c.3465C>G XP_006719066.1:p.Pro1155=
XM_011520997.1:c.4707C>G XP_011519299.1:p.Pro1569=
XM_011520997.3:c.4707C>G XP_011519299.1:p.Pro1569=
XM_011520998.1:c.4704C>G XP_011519300.1:p.Pro1568=
XM_011520998.2:c.4704C>G XP_011519300.1:p.Pro1568=
XM_011520999.1:c.4707C>G XP_011519301.1:p.Pro1569=
XM_011520999.2:c.4707C>G XP_011519301.1:p.Pro1569=
XM_011521000.1:c.4707C>G XP_011519302.1:p.Pro1569=
XM_011521000.2:c.4707C>G XP_011519302.1:p.Pro1569=
XM_011521001.1:c.4428C>G XP_011519303.1:p.Pro1476=
XM_011521001.2:c.4428C>G XP_011519303.1:p.Pro1476=
XM_011521002.1:c.4245C>G XP_011519304.1:p.Pro1415=
XM_011521002.2:c.4245C>G XP_011519304.1:p.Pro1415=
XM_011521003.1:c.3969C>G XP_011519305.1:p.Pro1323=
XM_011521003.2:c.3969C>G XP_011519305.1:p.Pro1323=
XM_011521004.1:c.3966C>G XP_011519306.1:p.Pro1322=
XM_011521004.2:c.3966C>G XP_011519306.1:p.Pro1322=
XM_011521005.1:c.3486C>G XP_011519307.1:p.Pro1162=
XM_011521005.2:c.3486C>G XP_011519307.1:p.Pro1162=
XM_011521006.1:c.3384C>G XP_011519308.1:p.Pro1128=
XM_011521006.2:c.3384C>G XP_011519308.1:p.Pro1128=
XM_011521007.1:c.3381C>G XP_011519309.1:p.Pro1127=
XM_011521007.2:c.3381C>G XP_011519309.1:p.Pro1127=
XM_011521008.1:c.2646C>G XP_011519310.1:p.Pro882=
XM_011521008.2:c.2646C>G XP_011519310.1:p.Pro882=
XM_011521009.1:c.2643C>G XP_011519311.1:p.Pro881=
XM_011521009.2:c.2643C>G XP_011519311.1:p.Pro881=
XM_017019834.1:c.3006C>G XP_016875323.1:p.Pro1002=
XM_017019835.1:c.2925C>G XP_016875324.1:p.Pro975=
XM_017019836.1:c.2922C>G XP_016875325.1:p.Pro974=
XM_017019837.1:c.2730C>G XP_016875326.1:p.Pro910=
XM_017019838.1:c.2727C>G XP_016875327.1:p.Pro909=
XM_017019839.1:c.2646C>G XP_016875328.1:p.Pro882=