Canonical Allele Identifier: CA383339139

Gene: WNK1

Linked Data

• ClinVar Variation Id: 2126848
• ClinVar RCV Id: RCV003051867
• MyVariant Identifiers: chr12:g.977197C>G (hg19) ; chr12:g.868031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.868031C>G , CM000674.2:g.868031C>G	GRCh38
NC_000012.11:g.977197C>G , CM000674.1:g.977197C>G	GRCh37
NC_000012.10:g.847458C>G	NCBI36
NG_007984.2:g.119973C>G
NG_007984.3:g.119973C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315939.11:c.2140-3234C>G MANE Select	ENSP00000313059.6:n.2140-3234C>G
ENST00000340908.9:c.2560C>G MANE Plus Clinical	ENSP00000341292.5:p.Gln854Glu
ENST00000675631.1:c.919-3234C>G	ENSP00000502415.1:n.919-3234C>G
ENST00000676347.1:c.408+5761C>G	ENSP00000501875.1:n.408+5761C>G
ENST00000315939.10:c.2140-3234C>G	ENSP00000313059.6:n.2140-3234C>G
ENST00000340908.8:c.2560C>G	ENSP00000341292.5:p.Gln854Glu
ENST00000530271.6:c.2305C>G	ENSP00000433548.3:p.Gln769Glu
ENST00000535572.5:c.2140-3234C>G	ENSP00000441972.1:n.2140-3234C>G
ENST00000535698.1:c.36+5761C>G	ENSP00000439552.1:n.36+5761C>G
ENST00000537687.5:c.2305C>G	ENSP00000444465.1:p.Gln769Glu
ENST00000544965.5:c.190+5761C>G
ENST00000545285.5:c.98-3234C>G
ENST00000574564.1:c.202C>G	ENSP00000460651.1:p.Gln68Glu
NM_001184985.1:c.2305C>G	NP_001171914.1:p.Gln769Glu
NM_014823.2:c.2140-3234C>G	NP_055638.2:n.2140-3234C>G
NM_018979.3:c.2140-3234C>G	NP_061852.3:n.2140-3234C>G
NM_213655.4:c.2560C>G	NP_998820.3:p.Gln854Glu
XM_006719003.1:c.2140-3234C>G	XP_006719066.1:n.2140-3234C>G
XM_011520997.1:c.2305C>G	XP_011519299.1:p.Gln769Glu
XM_011520998.1:c.2305C>G	XP_011519300.1:p.Gln769Glu
XM_011520999.1:c.2305C>G	XP_011519301.1:p.Gln769Glu
XM_011521000.1:c.2305C>G	XP_011519302.1:p.Gln769Glu
XM_011521001.1:c.2305C>G	XP_011519303.1:p.Gln769Glu
XM_011521002.1:c.2305C>G	XP_011519304.1:p.Gln769Glu
XM_011521003.1:c.2305C>G	XP_011519305.1:p.Gln769Glu
XM_011521004.1:c.2305C>G	XP_011519306.1:p.Gln769Glu
XM_011521005.1:c.1084C>G	XP_011519307.1:p.Gln362Glu
XM_011521006.1:c.2139+5761C>G	XP_011519308.1:n.2139+5761C>G
XM_011521007.1:c.2139+5761C>G	XP_011519309.1:n.2139+5761C>G
XM_011521008.1:c.2139+5761C>G	XP_011519310.1:n.2139+5761C>G
XM_011521009.1:c.2139+5761C>G	XP_011519311.1:n.2139+5761C>G
XM_006719003.2:c.2140-3234C>G	XP_006719066.1:n.2140-3234C>G
XM_011520997.3:c.2305C>G	XP_011519299.1:p.Gln769Glu
XM_011520998.2:c.2305C>G	XP_011519300.1:p.Gln769Glu
XM_011520999.2:c.2305C>G	XP_011519301.1:p.Gln769Glu
XM_011521000.2:c.2305C>G	XP_011519302.1:p.Gln769Glu
XM_011521001.2:c.2305C>G	XP_011519303.1:p.Gln769Glu
XM_011521002.2:c.2305C>G	XP_011519304.1:p.Gln769Glu
XM_011521003.2:c.2305C>G	XP_011519305.1:p.Gln769Glu
XM_011521004.2:c.2305C>G	XP_011519306.1:p.Gln769Glu
XM_011521005.2:c.1084C>G	XP_011519307.1:p.Gln362Glu
XM_011521006.2:c.2139+5761C>G	XP_011519308.1:n.2139+5761C>G
XM_011521007.2:c.2139+5761C>G	XP_011519309.1:n.2139+5761C>G
XM_011521008.2:c.2139+5761C>G	XP_011519310.1:n.2139+5761C>G
XM_011521009.2:c.2139+5761C>G	XP_011519311.1:n.2139+5761C>G
XM_017019834.1:c.2140-3234C>G	XP_016875323.1:n.2140-3234C>G
XM_017019835.1:c.2139+5761C>G	XP_016875324.1:n.2139+5761C>G
XM_017019836.1:c.2139+5761C>G	XP_016875325.1:n.2139+5761C>G
XM_017019837.1:c.2140-3234C>G	XP_016875326.1:n.2140-3234C>G
XM_017019838.1:c.2140-3234C>G	XP_016875327.1:n.2140-3234C>G
XM_017019839.1:c.2139+5761C>G	XP_016875328.1:n.2139+5761C>G
NM_018979.4:c.2140-3234C>G MANE Select	NP_061852.3:n.2140-3234C>G
NM_014823.3:c.2140-3234C>G	NP_055638.2:n.2140-3234C>G
NM_001184985.2:c.2305C>G	NP_001171914.1:p.Gln769Glu
NM_213655.5:c.2560C>G MANE Plus Clinical	NP_998820.3:p.Gln854Glu