Canonical Allele Identifier: CA383333348
Community Standard Title: NM_018979.4(WNK1):c.5448+1G>T
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.889224G>T , CM000674.2:g.889224G>T GRCh38
NC_000012.11:g.998390G>T , CM000674.1:g.998390G>T GRCh37
NC_000012.10:g.868651G>T NCBI36
NG_007984.2:g.141166G>T
NG_007984.3:g.141166G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.5448+1G>T MANE Select NP_061852.3:n.5448+1G>T
ENST00000315939.11:c.5448+1G>T MANE Select ENSP00000313059.6:n.5448+1G>T
NM_213655.5:c.6204+1G>T MANE Plus Clinical NP_998820.3:n.6204+1G>T
ENST00000340908.9:c.6204+1G>T MANE Plus Clinical ENSP00000341292.5:n.6204+1G>T
NM_001184985.1:c.6228+1G>T NP_001171914.1:n.6228+1G>T
NM_001184985.2:c.6228+1G>T NP_001171914.1:n.6228+1G>T
NM_014823.2:c.4707+1G>T NP_055638.2:n.4707+1G>T
NM_014823.3:c.4707+1G>T NP_055638.2:n.4707+1G>T
NM_018979.3:c.5448+1G>T NP_061852.3:n.5448+1G>T
NM_213655.4:c.6204+1G>T NP_998820.3:n.6204+1G>T
ENST00000315939.10:c.5448+1G>T ENSP00000313059.6:n.5448+1G>T
ENST00000340908.8:c.6204+1G>T ENSP00000341292.5:n.6204+1G>T
ENST00000530271.6:c.6687+1G>T ENSP00000433548.3:n.6687+1G>T
ENST00000535572.5:c.4707+1G>T ENSP00000441972.1:n.4707+1G>T
ENST00000537687.5:c.6228+1G>T ENSP00000444465.1:n.6228+1G>T
ENST00000675631.1:c.4227+1G>T ENSP00000502415.1:n.4227+1G>T
ENST00000676347.1:c.2895+1G>T ENSP00000501875.1:n.2895+1G>T
XM_006719003.1:c.5445+1G>T XP_006719066.1:n.5445+1G>T
XM_006719003.2:c.5445+1G>T XP_006719066.1:n.5445+1G>T
XM_011520997.1:c.6687+1G>T XP_011519299.1:n.6687+1G>T
XM_011520997.3:c.6687+1G>T XP_011519299.1:n.6687+1G>T
XM_011520998.1:c.6684+1G>T XP_011519300.1:n.6684+1G>T
XM_011520998.2:c.6684+1G>T XP_011519300.1:n.6684+1G>T
XM_011520999.1:c.6687+1G>T XP_011519301.1:n.6687+1G>T
XM_011520999.2:c.6687+1G>T XP_011519301.1:n.6687+1G>T
XM_011521000.1:c.6687+1G>T XP_011519302.1:n.6687+1G>T
XM_011521000.2:c.6687+1G>T XP_011519302.1:n.6687+1G>T
XM_011521001.1:c.6408+1G>T XP_011519303.1:n.6408+1G>T
XM_011521001.2:c.6408+1G>T XP_011519303.1:n.6408+1G>T
XM_011521002.1:c.6225+1G>T XP_011519304.1:n.6225+1G>T
XM_011521002.2:c.6225+1G>T XP_011519304.1:n.6225+1G>T
XM_011521003.1:c.5949+1G>T XP_011519305.1:n.5949+1G>T
XM_011521003.2:c.5949+1G>T XP_011519305.1:n.5949+1G>T
XM_011521004.1:c.5946+1G>T XP_011519306.1:n.5946+1G>T
XM_011521004.2:c.5946+1G>T XP_011519306.1:n.5946+1G>T
XM_011521005.1:c.5466+1G>T XP_011519307.1:n.5466+1G>T
XM_011521005.2:c.5466+1G>T XP_011519307.1:n.5466+1G>T
XM_011521006.1:c.5364+1G>T XP_011519308.1:n.5364+1G>T
XM_011521006.2:c.5364+1G>T XP_011519308.1:n.5364+1G>T
XM_011521007.1:c.5361+1G>T XP_011519309.1:n.5361+1G>T
XM_011521007.2:c.5361+1G>T XP_011519309.1:n.5361+1G>T
XM_011521008.1:c.4626+1G>T XP_011519310.1:n.4626+1G>T
XM_011521008.2:c.4626+1G>T XP_011519310.1:n.4626+1G>T
XM_011521009.1:c.4623+1G>T XP_011519311.1:n.4623+1G>T
XM_011521009.2:c.4623+1G>T XP_011519311.1:n.4623+1G>T
XM_017019834.1:c.4986+1G>T XP_016875323.1:n.4986+1G>T
XM_017019835.1:c.4905+1G>T XP_016875324.1:n.4905+1G>T
XM_017019836.1:c.4902+1G>T XP_016875325.1:n.4902+1G>T
XM_017019837.1:c.4710+1G>T XP_016875326.1:n.4710+1G>T
XM_017019838.1:c.4707+1G>T XP_016875327.1:n.4707+1G>T
XM_017019839.1:c.4626+1G>T XP_016875328.1:n.4626+1G>T