Canonical Allele Identifier: CA383337451
Community Standard Title: NM_018979.4(WNK1):c.6448+2T>C
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.897683T>C , CM000674.2:g.897683T>C GRCh38
NC_000012.11:g.1006849T>C , CM000674.1:g.1006849T>C GRCh37
NC_000012.10:g.877110T>C NCBI36
NG_007984.2:g.149625T>C
NG_007984.3:g.149625T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.6448+2T>C MANE Select NP_061852.3:n.6448+2T>C
ENST00000315939.11:c.6448+2T>C MANE Select ENSP00000313059.6:n.6448+2T>C
NM_213655.5:c.7204+2T>C MANE Plus Clinical NP_998820.3:n.7204+2T>C
ENST00000340908.9:c.7204+2T>C MANE Plus Clinical ENSP00000341292.5:n.7204+2T>C
NM_001184985.1:c.7228+2T>C NP_001171914.1:n.7228+2T>C
NM_001184985.2:c.7228+2T>C NP_001171914.1:n.7228+2T>C
NM_014823.2:c.5704+2T>C NP_055638.2:n.5704+2T>C
NM_014823.3:c.5704+2T>C NP_055638.2:n.5704+2T>C
NM_018979.3:c.6448+2T>C NP_061852.3:n.6448+2T>C
NM_213655.4:c.7204+2T>C NP_998820.3:n.7204+2T>C
ENST00000315939.10:c.6448+2T>C ENSP00000313059.6:n.6448+2T>C
ENST00000340908.8:c.7204+2T>C ENSP00000341292.5:n.7204+2T>C
ENST00000530271.6:c.7687+2T>C ENSP00000433548.3:n.7687+2T>C
ENST00000535572.5:c.5704+2T>C ENSP00000441972.1:n.5704+2T>C
ENST00000537687.5:c.7228+2T>C ENSP00000444465.1:n.7228+2T>C
ENST00000542424.1:n.313+2T>C
ENST00000675631.1:c.5227+2T>C ENSP00000502415.1:n.5227+2T>C
ENST00000676347.1:c.3895+2T>C ENSP00000501875.1:n.3895+2T>C
XM_006719003.1:c.6445+2T>C XP_006719066.1:n.6445+2T>C
XM_006719003.2:c.6445+2T>C XP_006719066.1:n.6445+2T>C
XM_011520997.1:c.7687+2T>C XP_011519299.1:n.7687+2T>C
XM_011520997.3:c.7687+2T>C XP_011519299.1:n.7687+2T>C
XM_011520998.1:c.7684+2T>C XP_011519300.1:n.7684+2T>C
XM_011520998.2:c.7684+2T>C XP_011519300.1:n.7684+2T>C
XM_011520999.1:c.7684+2T>C XP_011519301.1:n.7684+2T>C
XM_011520999.2:c.7684+2T>C XP_011519301.1:n.7684+2T>C
XM_011521000.1:c.7687+2T>C XP_011519302.1:n.7687+2T>C
XM_011521000.2:c.7687+2T>C XP_011519302.1:n.7687+2T>C
XM_011521001.1:c.7408+2T>C XP_011519303.1:n.7408+2T>C
XM_011521001.2:c.7408+2T>C XP_011519303.1:n.7408+2T>C
XM_011521002.1:c.7225+2T>C XP_011519304.1:n.7225+2T>C
XM_011521002.2:c.7225+2T>C XP_011519304.1:n.7225+2T>C
XM_011521003.1:c.6949+2T>C XP_011519305.1:n.6949+2T>C
XM_011521003.2:c.6949+2T>C XP_011519305.1:n.6949+2T>C
XM_011521004.1:c.6946+2T>C XP_011519306.1:n.6946+2T>C
XM_011521004.2:c.6946+2T>C XP_011519306.1:n.6946+2T>C
XM_011521005.1:c.6466+2T>C XP_011519307.1:n.6466+2T>C
XM_011521005.2:c.6466+2T>C XP_011519307.1:n.6466+2T>C
XM_011521006.1:c.6364+2T>C XP_011519308.1:n.6364+2T>C
XM_011521006.2:c.6364+2T>C XP_011519308.1:n.6364+2T>C
XM_011521007.1:c.6361+2T>C XP_011519309.1:n.6361+2T>C
XM_011521007.2:c.6361+2T>C XP_011519309.1:n.6361+2T>C
XM_011521008.1:c.5626+2T>C XP_011519310.1:n.5626+2T>C
XM_011521008.2:c.5626+2T>C XP_011519310.1:n.5626+2T>C
XM_011521009.1:c.5623+2T>C XP_011519311.1:n.5623+2T>C
XM_011521009.2:c.5623+2T>C XP_011519311.1:n.5623+2T>C
XM_017019834.1:c.5986+2T>C XP_016875323.1:n.5986+2T>C
XM_017019835.1:c.5905+2T>C XP_016875324.1:n.5905+2T>C
XM_017019836.1:c.5902+2T>C XP_016875325.1:n.5902+2T>C
XM_017019837.1:c.5710+2T>C XP_016875326.1:n.5710+2T>C
XM_017019838.1:c.5707+2T>C XP_016875327.1:n.5707+2T>C
XM_017019839.1:c.5626+2T>C XP_016875328.1:n.5626+2T>C