Canonical Allele Identifier: CA6383537
Community Standard Title: NM_018979.4(WNK1):c.6958A>G (p.Met2320Val)
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.908601A>G , CM000674.2:g.908601A>G GRCh38
NC_000012.11:g.1017767A>G , CM000674.1:g.1017767A>G GRCh37
NC_000012.10:g.888028A>G NCBI36
NG_007984.2:g.160543A>G
NG_007984.3:g.160543A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.6958A>G MANE Select NP_061852.3:p.Met2320Val
ENST00000315939.11:c.6958A>G MANE Select ENSP00000313059.6:p.Met2320Val
NM_213655.5:c.7714A>G MANE Plus Clinical NP_998820.3:p.Met2572Val
ENST00000340908.9:c.7714A>G MANE Plus Clinical ENSP00000341292.5:p.Met2572Val
NM_001184985.1:c.7738A>G NP_001171914.1:p.Met2580Val
NM_001184985.2:c.7738A>G NP_001171914.1:p.Met2580Val
NM_014823.2:c.6214A>G NP_055638.2:p.Met2072Val
NM_014823.3:c.6214A>G NP_055638.2:p.Met2072Val
NM_018979.3:c.6958A>G NP_061852.3:p.Met2320Val
NM_213655.4:c.7714A>G NP_998820.3:p.Met2572Val
ENST00000315939.10:c.6958A>G ENSP00000313059.6:p.Met2320Val
ENST00000340908.8:c.7714A>G ENSP00000341292.5:p.Met2572Val
ENST00000530271.6:c.8311A>G ENSP00000433548.3:p.Met2771Val
ENST00000535572.5:c.6214A>G ENSP00000441972.1:p.Met2072Val
ENST00000537687.5:c.7738A>G ENSP00000444465.1:p.Met2580Val
ENST00000540885.1:n.442A>G
ENST00000675631.1:c.5737A>G ENSP00000502415.1:p.Met1913Val
ENST00000676347.1:c.4405A>G ENSP00000501875.1:p.Met1469Val
XM_006719003.1:c.6955A>G XP_006719066.1:p.Met2319Val
XM_006719003.2:c.6955A>G XP_006719066.1:p.Met2319Val
XM_011520997.1:c.8197A>G XP_011519299.1:p.Met2733Val
XM_011520997.3:c.8197A>G XP_011519299.1:p.Met2733Val
XM_011520998.1:c.8194A>G XP_011519300.1:p.Met2732Val
XM_011520998.2:c.8194A>G XP_011519300.1:p.Met2732Val
XM_011520999.1:c.8194A>G XP_011519301.1:p.Met2732Val
XM_011520999.2:c.8194A>G XP_011519301.1:p.Met2732Val
XM_011521000.1:c.8002A>G XP_011519302.1:p.Met2668Val
XM_011521000.2:c.8002A>G XP_011519302.1:p.Met2668Val
XM_011521001.1:c.7918A>G XP_011519303.1:p.Met2640Val
XM_011521001.2:c.7918A>G XP_011519303.1:p.Met2640Val
XM_011521002.1:c.7735A>G XP_011519304.1:p.Met2579Val
XM_011521002.2:c.7735A>G XP_011519304.1:p.Met2579Val
XM_011521003.1:c.7459A>G XP_011519305.1:p.Met2487Val
XM_011521003.2:c.7459A>G XP_011519305.1:p.Met2487Val
XM_011521004.1:c.7456A>G XP_011519306.1:p.Met2486Val
XM_011521004.2:c.7456A>G XP_011519306.1:p.Met2486Val
XM_011521005.1:c.6976A>G XP_011519307.1:p.Met2326Val
XM_011521005.2:c.6976A>G XP_011519307.1:p.Met2326Val
XM_011521006.1:c.6874A>G XP_011519308.1:p.Met2292Val
XM_011521006.2:c.6874A>G XP_011519308.1:p.Met2292Val
XM_011521007.1:c.6871A>G XP_011519309.1:p.Met2291Val
XM_011521007.2:c.6871A>G XP_011519309.1:p.Met2291Val
XM_011521008.1:c.6136A>G XP_011519310.1:p.Met2046Val
XM_011521008.2:c.6136A>G XP_011519310.1:p.Met2046Val
XM_011521009.1:c.6133A>G XP_011519311.1:p.Met2045Val
XM_011521009.2:c.6133A>G XP_011519311.1:p.Met2045Val
XM_017019834.1:c.6496A>G XP_016875323.1:p.Met2166Val
XM_017019835.1:c.6415A>G XP_016875324.1:p.Met2139Val
XM_017019836.1:c.6412A>G XP_016875325.1:p.Met2138Val
XM_017019837.1:c.6220A>G XP_016875326.1:p.Met2074Val
XM_017019838.1:c.6217A>G XP_016875327.1:p.Met2073Val
XM_017019839.1:c.5941A>G XP_016875328.1:p.Met1981Val