Canonical Allele Identifier: CA383339853

Gene: WNK1

Linked Data

• MyVariant Identifiers: chr12:g.977536A>C (hg19) ; chr12:g.868370A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.868370A>C , CM000674.2:g.868370A>C	GRCh38
NC_000012.11:g.977536A>C , CM000674.1:g.977536A>C	GRCh37
NC_000012.10:g.847797A>C	NCBI36
NG_007984.2:g.120312A>C
NG_007984.3:g.120312A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315939.11:c.2140-2895A>C MANE Select	ENSP00000313059.6:n.2140-2895A>C
ENST00000340908.9:c.2899A>C MANE Plus Clinical	ENSP00000341292.5:p.Ile967Leu
ENST00000675631.1:c.919-2895A>C	ENSP00000502415.1:n.919-2895A>C
ENST00000676347.1:c.408+6100A>C	ENSP00000501875.1:n.408+6100A>C
ENST00000315939.10:c.2140-2895A>C	ENSP00000313059.6:n.2140-2895A>C
ENST00000340908.8:c.2899A>C	ENSP00000341292.5:p.Ile967Leu
ENST00000530271.6:c.2644A>C	ENSP00000433548.3:p.Ile882Leu
ENST00000535572.5:c.2140-2895A>C	ENSP00000441972.1:n.2140-2895A>C
ENST00000535698.1:c.36+6100A>C	ENSP00000439552.1:n.36+6100A>C
ENST00000537687.5:c.2644A>C	ENSP00000444465.1:p.Ile882Leu
ENST00000544965.5:c.190+6100A>C
ENST00000545285.5:c.98-2895A>C
ENST00000574564.1:c.541A>C	ENSP00000460651.1:p.Ile181Leu
NM_001184985.1:c.2644A>C	NP_001171914.1:p.Ile882Leu
NM_014823.2:c.2140-2895A>C	NP_055638.2:n.2140-2895A>C
NM_018979.3:c.2140-2895A>C	NP_061852.3:n.2140-2895A>C
NM_213655.4:c.2899A>C	NP_998820.3:p.Ile967Leu
XM_006719003.1:c.2140-2895A>C	XP_006719066.1:n.2140-2895A>C
XM_011520997.1:c.2644A>C	XP_011519299.1:p.Ile882Leu
XM_011520998.1:c.2644A>C	XP_011519300.1:p.Ile882Leu
XM_011520999.1:c.2644A>C	XP_011519301.1:p.Ile882Leu
XM_011521000.1:c.2644A>C	XP_011519302.1:p.Ile882Leu
XM_011521001.1:c.2644A>C	XP_011519303.1:p.Ile882Leu
XM_011521002.1:c.2644A>C	XP_011519304.1:p.Ile882Leu
XM_011521003.1:c.2644A>C	XP_011519305.1:p.Ile882Leu
XM_011521004.1:c.2644A>C	XP_011519306.1:p.Ile882Leu
XM_011521005.1:c.1423A>C	XP_011519307.1:p.Ile475Leu
XM_011521006.1:c.2139+6100A>C	XP_011519308.1:n.2139+6100A>C
XM_011521007.1:c.2139+6100A>C	XP_011519309.1:n.2139+6100A>C
XM_011521008.1:c.2139+6100A>C	XP_011519310.1:n.2139+6100A>C
XM_011521009.1:c.2139+6100A>C	XP_011519311.1:n.2139+6100A>C
XM_006719003.2:c.2140-2895A>C	XP_006719066.1:n.2140-2895A>C
XM_011520997.3:c.2644A>C	XP_011519299.1:p.Ile882Leu
XM_011520998.2:c.2644A>C	XP_011519300.1:p.Ile882Leu
XM_011520999.2:c.2644A>C	XP_011519301.1:p.Ile882Leu
XM_011521000.2:c.2644A>C	XP_011519302.1:p.Ile882Leu
XM_011521001.2:c.2644A>C	XP_011519303.1:p.Ile882Leu
XM_011521002.2:c.2644A>C	XP_011519304.1:p.Ile882Leu
XM_011521003.2:c.2644A>C	XP_011519305.1:p.Ile882Leu
XM_011521004.2:c.2644A>C	XP_011519306.1:p.Ile882Leu
XM_011521005.2:c.1423A>C	XP_011519307.1:p.Ile475Leu
XM_011521006.2:c.2139+6100A>C	XP_011519308.1:n.2139+6100A>C
XM_011521007.2:c.2139+6100A>C	XP_011519309.1:n.2139+6100A>C
XM_011521008.2:c.2139+6100A>C	XP_011519310.1:n.2139+6100A>C
XM_011521009.2:c.2139+6100A>C	XP_011519311.1:n.2139+6100A>C
XM_017019834.1:c.2140-2895A>C	XP_016875323.1:n.2140-2895A>C
XM_017019835.1:c.2139+6100A>C	XP_016875324.1:n.2139+6100A>C
XM_017019836.1:c.2139+6100A>C	XP_016875325.1:n.2139+6100A>C
XM_017019837.1:c.2140-2895A>C	XP_016875326.1:n.2140-2895A>C
XM_017019838.1:c.2140-2895A>C	XP_016875327.1:n.2140-2895A>C
XM_017019839.1:c.2139+6100A>C	XP_016875328.1:n.2139+6100A>C
NM_018979.4:c.2140-2895A>C MANE Select	NP_061852.3:n.2140-2895A>C
NM_014823.3:c.2140-2895A>C	NP_055638.2:n.2140-2895A>C
NM_001184985.2:c.2644A>C	NP_001171914.1:p.Ile882Leu
NM_213655.5:c.2899A>C MANE Plus Clinical	NP_998820.3:p.Ile967Leu