Canonical Allele Identifier: CA478084306
Community Standard Title: NM_018979.4(WNK1):c.4830G>A (p.Val1610=)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.885634G>A , CM000674.2:g.885634G>A GRCh38
NC_000012.11:g.994800G>A , CM000674.1:g.994800G>A GRCh37
NC_000012.10:g.865061G>A NCBI36
NG_007984.2:g.137576G>A
NG_007984.3:g.137576G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.4830G>A MANE Select NP_061852.3:p.Val1610=
ENST00000315939.11:c.4830G>A MANE Select ENSP00000313059.6:p.Val1610=
NM_213655.5:c.5586G>A MANE Plus Clinical NP_998820.3:p.Val1862=
ENST00000340908.9:c.5586G>A MANE Plus Clinical ENSP00000341292.5:p.Val1862=
NM_001184985.1:c.5610G>A NP_001171914.1:p.Val1870=
NM_001184985.2:c.5610G>A NP_001171914.1:p.Val1870=
NM_014823.2:c.4089G>A NP_055638.2:p.Val1363=
NM_014823.3:c.4089G>A NP_055638.2:p.Val1363=
NM_018979.3:c.4830G>A NP_061852.3:p.Val1610=
NM_213655.4:c.5586G>A NP_998820.3:p.Val1862=
ENST00000315939.10:c.4830G>A ENSP00000313059.6:p.Val1610=
ENST00000340908.8:c.5586G>A ENSP00000341292.5:p.Val1862=
ENST00000530271.6:c.6069G>A ENSP00000433548.3:p.Val2023=
ENST00000535572.5:c.4089G>A ENSP00000441972.1:p.Val1363=
ENST00000537687.5:c.5610G>A ENSP00000444465.1:p.Val1870=
ENST00000675236.1:n.3725G>A
ENST00000675631.1:c.3609G>A ENSP00000502415.1:p.Val1203=
ENST00000676347.1:c.2277G>A ENSP00000501875.1:p.Val759=
XM_006719003.1:c.4827G>A XP_006719066.1:p.Val1609=
XM_006719003.2:c.4827G>A XP_006719066.1:p.Val1609=
XM_011520997.1:c.6069G>A XP_011519299.1:p.Val2023=
XM_011520997.3:c.6069G>A XP_011519299.1:p.Val2023=
XM_011520998.1:c.6066G>A XP_011519300.1:p.Val2022=
XM_011520998.2:c.6066G>A XP_011519300.1:p.Val2022=
XM_011520999.1:c.6069G>A XP_011519301.1:p.Val2023=
XM_011520999.2:c.6069G>A XP_011519301.1:p.Val2023=
XM_011521000.1:c.6069G>A XP_011519302.1:p.Val2023=
XM_011521000.2:c.6069G>A XP_011519302.1:p.Val2023=
XM_011521001.1:c.5790G>A XP_011519303.1:p.Val1930=
XM_011521001.2:c.5790G>A XP_011519303.1:p.Val1930=
XM_011521002.1:c.5607G>A XP_011519304.1:p.Val1869=
XM_011521002.2:c.5607G>A XP_011519304.1:p.Val1869=
XM_011521003.1:c.5331G>A XP_011519305.1:p.Val1777=
XM_011521003.2:c.5331G>A XP_011519305.1:p.Val1777=
XM_011521004.1:c.5328G>A XP_011519306.1:p.Val1776=
XM_011521004.2:c.5328G>A XP_011519306.1:p.Val1776=
XM_011521005.1:c.4848G>A XP_011519307.1:p.Val1616=
XM_011521005.2:c.4848G>A XP_011519307.1:p.Val1616=
XM_011521006.1:c.4746G>A XP_011519308.1:p.Val1582=
XM_011521006.2:c.4746G>A XP_011519308.1:p.Val1582=
XM_011521007.1:c.4743G>A XP_011519309.1:p.Val1581=
XM_011521007.2:c.4743G>A XP_011519309.1:p.Val1581=
XM_011521008.1:c.4008G>A XP_011519310.1:p.Val1336=
XM_011521008.2:c.4008G>A XP_011519310.1:p.Val1336=
XM_011521009.1:c.4005G>A XP_011519311.1:p.Val1335=
XM_011521009.2:c.4005G>A XP_011519311.1:p.Val1335=
XM_017019834.1:c.4368G>A XP_016875323.1:p.Val1456=
XM_017019835.1:c.4287G>A XP_016875324.1:p.Val1429=
XM_017019836.1:c.4284G>A XP_016875325.1:p.Val1428=
XM_017019837.1:c.4092G>A XP_016875326.1:p.Val1364=
XM_017019838.1:c.4089G>A XP_016875327.1:p.Val1363=
XM_017019839.1:c.4008G>A XP_016875328.1:p.Val1336=