Canonical Allele Identifier: CA347922

Gene: WAC

Linked Data

• ClinVar Variation Id: 219142
• ClinVar RCV Id: RCV000203521 ; RCV000624276
• dbSNP Id: rs864321692
• gnomAD v4: 10-28583498-C-A
• COSMIC: COSM4802832 ; COSM4802833
• MyVariant Identifiers: chr10:g.28872427C>A (hg19) ; chr10:g.28583498C>A (hg38)
• PubMed: PMID:21522184 ; PMID:23033978 ; PMID:25356899 ; PMID:26264232 ; PMID:26325558 ; PMID:26757981 ; PMID:26795593

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.28583498C>A , CM000672.2:g.28583498C>A	GRCh38
NC_000010.10:g.28872427C>A , CM000672.1:g.28872427C>A	GRCh37
NC_000010.9:g.28912433C>A	NCBI36
NG_046603.1:g.55911C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700325.1:c.362C>A	ENSP00000514952.1:p.Ser121Ter
ENST00000706612.1:c.364C>A	ENSP00000516469.1:p.Gln122Lys
ENST00000354911.9:c.374C>A MANE Select	ENSP00000346986.4:p.Ser125Ter
ENST00000414108.6:c.239C>A	ENSP00000415645.2:p.Ser80Ter
ENST00000420266.6:c.*288C>A	ENSP00000404758.2:n.*288C>A
ENST00000428935.6:c.239C>A	ENSP00000399706.3:p.Ser80Ter
ENST00000442148.6:c.239C>A	ENSP00000400848.2:p.Ser80Ter
ENST00000628285.3:c.232C>A	ENSP00000486994.2:p.Gln78Lys
ENST00000651441.1:c.239C>A	ENSP00000498450.1:p.Ser80Ter
ENST00000651598.1:c.239C>A	ENSP00000498480.1:p.Ser80Ter
ENST00000651885.1:c.392C>A	ENSP00000498678.1:p.Ser131Ter
ENST00000679398.1:c.239C>A	ENSP00000506624.1:p.Ser80Ter
ENST00000679428.1:c.239C>A	ENSP00000506445.1:p.Ser80Ter
ENST00000679570.1:c.*369C>A	ENSP00000506705.1:n.*369C>A
ENST00000680735.1:c.247C>A	ENSP00000505513.1:p.Gln83Lys
ENST00000681112.1:c.*227C>A	ENSP00000505444.1:n.*227C>A
ENST00000345541.6:n.172C>A
ENST00000347934.8:c.374C>A	ENSP00000311106.4:p.Ser125Ter
ENST00000354911.8:c.374C>A	ENSP00000346986.4:p.Ser125Ter
ENST00000375646.5:c.239C>A	ENSP00000364797.1:p.Ser80Ter
ENST00000375664.8:c.239C>A	ENSP00000364816.3:p.Ser80Ter
ENST00000414108.5:c.239C>A	ENSP00000415645.1:p.Ser80Ter
ENST00000420266.5:c.239C>A	ENSP00000404758.1:p.Ser80Ter
ENST00000424454.5:c.*382C>A	ENSP00000404125.2:n.*382C>A
ENST00000428935.5:c.247C>A	ENSP00000399706.2:p.Gln83Lys
ENST00000439676.5:c.239C>A	ENSP00000415727.1:p.Ser80Ter
ENST00000442148.5:c.239C>A	ENSP00000400848.1:p.Ser80Ter
ENST00000628285.2:c.247C>A	ENSP00000486994.1:p.Gln83Lys
NM_016628.4:c.374C>A	NP_057712.2:p.Ser125Ter
NM_100264.2:c.239C>A	NP_567822.1:p.Ser80Ter
NM_100486.3:c.374C>A	NP_567823.1:p.Ser125Ter
XM_005252454.2:c.392C>A	XP_005252511.1:p.Ser131Ter
XM_011519491.1:c.239C>A	XP_011517793.1:p.Ser80Ter
XR_930491.1:n.294C>A
XM_017016315.2:c.239C>A	XP_016871804.1:p.Ser80Ter
XM_017016317.2:c.239C>A	XP_016871806.1:p.Ser80Ter
XM_017016318.2:c.239C>A	XP_016871807.1:p.Ser80Ter
XM_024448036.1:c.239C>A	XP_024303804.1:p.Ser80Ter
XR_001747110.1:n.329C>A
XR_930491.2:n.294C>A
NM_016628.5:c.374C>A MANE Select	NP_057712.2:p.Ser125Ter
NM_100264.3:c.239C>A	NP_567822.1:p.Ser80Ter
NM_100486.4:c.374C>A	NP_567823.1:p.Ser125Ter