Canonical Allele Identifier: CA376406058
Gene: WAC HGNC NCBI

Linked Data

ClinVar Variation Id: 522961
ClinVar RCV Id: RCV000626158
dbSNP Id: rs1554791975
COSMIC: COSM166881

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28616363G>A , CM000672.2:g.28616363G>A GRCh38
NC_000010.10:g.28905292G>A , CM000672.1:g.28905292G>A GRCh37
NC_000010.9:g.28945298G>A NCBI36
NG_046603.1:g.88776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495268.3:c.1838+1G>A ENSP00000514964.1:n.1838+1G>A
ENST00000700325.1:c.1734+1G>A ENSP00000514952.1:n.1734+1G>A
ENST00000706612.1:c.1734+1G>A ENSP00000516469.1:n.1734+1G>A
ENST00000354911.9:c.1746+1G>A MANE Select ENSP00000346986.4:n.1746+1G>A
ENST00000414108.6:c.*312+1G>A ENSP00000415645.2:n.*312+1G>A
ENST00000420266.6:c.*1660+1G>A ENSP00000404758.2:n.*1660+1G>A
ENST00000442148.6:c.1611+1G>A ENSP00000400848.2:n.1611+1G>A
ENST00000628285.3:c.*1172+1G>A ENSP00000486994.2:n.*1172+1G>A
ENST00000679398.1:c.1611+1G>A ENSP00000506624.1:n.1611+1G>A
ENST00000679428.1:c.1611+1G>A ENSP00000506445.1:n.1611+1G>A
ENST00000679570.1:c.*1741+1G>A ENSP00000506705.1:n.*1741+1G>A
ENST00000680735.1:c.1617+1G>A ENSP00000505513.1:n.1617+1G>A
ENST00000681112.1:c.*1596+1G>A ENSP00000505444.1:n.*1596+1G>A
ENST00000345541.6:n.3974+1G>A
ENST00000347934.8:c.1437+1G>A ENSP00000311106.4:n.1437+1G>A
ENST00000354911.8:c.1746+1G>A ENSP00000346986.4:n.1746+1G>A
ENST00000375646.5:c.1290+1G>A ENSP00000364797.1:n.1290+1G>A
ENST00000375664.8:c.1611+1G>A ENSP00000364816.3:n.1611+1G>A
ENST00000439676.5:c.*527+1G>A ENSP00000415727.1:n.*527+1G>A
ENST00000480474.2:n.1364+1G>A
ENST00000628285.2:c.*1396+1G>A ENSP00000486994.1:n.*1396+1G>A
NM_016628.4:c.1746+1G>A NP_057712.2:n.1746+1G>A
NM_100264.2:c.1611+1G>A NP_567822.1:n.1611+1G>A
NM_100486.3:c.1437+1G>A NP_567823.1:n.1437+1G>A
XM_005252454.2:c.1764+1G>A XP_005252511.1:n.1764+1G>A
XM_011519491.1:c.1611+1G>A XP_011517793.1:n.1611+1G>A
XR_930491.1:n.1890+1G>A
XM_017016315.2:c.1608+1G>A XP_016871804.1:n.1608+1G>A
XM_017016317.2:c.1302+1G>A XP_016871806.1:n.1302+1G>A
XM_017016318.2:c.1299+1G>A XP_016871807.1:n.1299+1G>A
XM_024448036.1:c.1611+1G>A XP_024303804.1:n.1611+1G>A
XR_001747110.1:n.1928+1G>A
XR_930491.2:n.1890+1G>A
NM_016628.5:c.1746+1G>A MANE Select NP_057712.2:n.1746+1G>A
NM_100264.3:c.1611+1G>A NP_567822.1:n.1611+1G>A
NM_100486.4:c.1437+1G>A NP_567823.1:n.1437+1G>A