Canonical Allele Identifier: CA6383153

Gene: WNK1

Linked Data

• ClinVar Variation Id: 2194630
• ClinVar RCV Id: RCV002637242
• dbSNP Id: rs371353275
• ExAC: 12:998286 C / G
• gnomAD v2: 12-998286-C-G
• gnomAD v3: 12-889120-C-G
• gnomAD v4: 12-889120-C-G
• MyVariant Identifiers: chr12:g.998286C>G (hg19) ; chr12:g.889120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.889120C>G , CM000674.2:g.889120C>G	GRCh38
NC_000012.11:g.998286C>G , CM000674.1:g.998286C>G	GRCh37
NC_000012.10:g.868547C>G	NCBI36
NG_007984.2:g.141062C>G
NG_007984.3:g.141062C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000315939.11:c.5365-20C>G MANE Select	ENSP00000313059.6:n.5365-20C>G
ENST00000340908.9:c.6121-20C>G MANE Plus Clinical	ENSP00000341292.5:n.6121-20C>G
ENST00000675631.1:c.4144-20C>G	ENSP00000502415.1:n.4144-20C>G
ENST00000676347.1:c.2812-20C>G	ENSP00000501875.1:n.2812-20C>G
ENST00000315939.10:c.5365-20C>G	ENSP00000313059.6:n.5365-20C>G
ENST00000340908.8:c.6121-20C>G	ENSP00000341292.5:n.6121-20C>G
ENST00000530271.6:c.6604-20C>G	ENSP00000433548.3:n.6604-20C>G
ENST00000535572.5:c.4624-20C>G	ENSP00000441972.1:n.4624-20C>G
ENST00000537687.5:c.6145-20C>G	ENSP00000444465.1:n.6145-20C>G
NM_001184985.1:c.6145-20C>G	NP_001171914.1:n.6145-20C>G
NM_014823.2:c.4624-20C>G	NP_055638.2:n.4624-20C>G
NM_018979.3:c.5365-20C>G	NP_061852.3:n.5365-20C>G
NM_213655.4:c.6121-20C>G	NP_998820.3:n.6121-20C>G
XM_006719003.1:c.5362-20C>G	XP_006719066.1:n.5362-20C>G
XM_011520997.1:c.6604-20C>G	XP_011519299.1:n.6604-20C>G
XM_011520998.1:c.6601-20C>G	XP_011519300.1:n.6601-20C>G
XM_011520999.1:c.6604-20C>G	XP_011519301.1:n.6604-20C>G
XM_011521000.1:c.6604-20C>G	XP_011519302.1:n.6604-20C>G
XM_011521001.1:c.6325-20C>G	XP_011519303.1:n.6325-20C>G
XM_011521002.1:c.6142-20C>G	XP_011519304.1:n.6142-20C>G
XM_011521003.1:c.5866-20C>G	XP_011519305.1:n.5866-20C>G
XM_011521004.1:c.5863-20C>G	XP_011519306.1:n.5863-20C>G
XM_011521005.1:c.5383-20C>G	XP_011519307.1:n.5383-20C>G
XM_011521006.1:c.5281-20C>G	XP_011519308.1:n.5281-20C>G
XM_011521007.1:c.5278-20C>G	XP_011519309.1:n.5278-20C>G
XM_011521008.1:c.4543-20C>G	XP_011519310.1:n.4543-20C>G
XM_011521009.1:c.4540-20C>G	XP_011519311.1:n.4540-20C>G
XM_006719003.2:c.5362-20C>G	XP_006719066.1:n.5362-20C>G
XM_011520997.3:c.6604-20C>G	XP_011519299.1:n.6604-20C>G
XM_011520998.2:c.6601-20C>G	XP_011519300.1:n.6601-20C>G
XM_011520999.2:c.6604-20C>G	XP_011519301.1:n.6604-20C>G
XM_011521000.2:c.6604-20C>G	XP_011519302.1:n.6604-20C>G
XM_011521001.2:c.6325-20C>G	XP_011519303.1:n.6325-20C>G
XM_011521002.2:c.6142-20C>G	XP_011519304.1:n.6142-20C>G
XM_011521003.2:c.5866-20C>G	XP_011519305.1:n.5866-20C>G
XM_011521004.2:c.5863-20C>G	XP_011519306.1:n.5863-20C>G
XM_011521005.2:c.5383-20C>G	XP_011519307.1:n.5383-20C>G
XM_011521006.2:c.5281-20C>G	XP_011519308.1:n.5281-20C>G
XM_011521007.2:c.5278-20C>G	XP_011519309.1:n.5278-20C>G
XM_011521008.2:c.4543-20C>G	XP_011519310.1:n.4543-20C>G
XM_011521009.2:c.4540-20C>G	XP_011519311.1:n.4540-20C>G
XM_017019834.1:c.4903-20C>G	XP_016875323.1:n.4903-20C>G
XM_017019835.1:c.4822-20C>G	XP_016875324.1:n.4822-20C>G
XM_017019836.1:c.4819-20C>G	XP_016875325.1:n.4819-20C>G
XM_017019837.1:c.4627-20C>G	XP_016875326.1:n.4627-20C>G
XM_017019838.1:c.4624-20C>G	XP_016875327.1:n.4624-20C>G
XM_017019839.1:c.4543-20C>G	XP_016875328.1:n.4543-20C>G
NM_018979.4:c.5365-20C>G MANE Select	NP_061852.3:n.5365-20C>G
NM_014823.3:c.4624-20C>G	NP_055638.2:n.4624-20C>G
NM_001184985.2:c.6145-20C>G	NP_001171914.1:n.6145-20C>G
NM_213655.5:c.6121-20C>G MANE Plus Clinical	NP_998820.3:n.6121-20C>G