Canonical Allele Identifier: CA359961278
Gene: CWC27 HGNC NCBI

Linked Data

ClinVar Variation Id: 426072
ClinVar RCV Id: RCV000488874
dbSNP Id: rs1085307447

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64885447G>T , CM000667.2:g.64885447G>T GRCh38
NC_000005.9:g.64181274G>T , CM000667.1:g.64181274G>T GRCh37
NC_000005.8:g.64217030G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000545000.2:n.135G>T
ENST00000607786.2:c.643G>T ENSP00000509647.1:p.Glu215Ter
ENST00000687101.1:n.4059G>T
ENST00000687314.1:c.943G>T ENSP00000510578.1:p.Glu315Ter
ENST00000688318.1:c.943G>T ENSP00000508653.1:p.Glu315Ter
ENST00000689534.1:n.1144G>T
ENST00000691921.1:c.943G>T ENSP00000509657.1:p.Glu315Ter
ENST00000692005.1:c.844G>T ENSP00000509199.1:p.Glu282Ter
ENST00000692572.1:n.57G>T
ENST00000692763.1:c.943G>T ENSP00000510726.1:p.Glu315Ter
ENST00000693121.1:n.4040G>T
ENST00000693303.1:c.943G>T ENSP00000508557.1:p.Glu315Ter
ENST00000693660.1:c.844G>T ENSP00000509052.1:p.Glu282Ter
ENST00000381070.8:c.943G>T MANE Select ENSP00000370460.2:p.Glu315Ter
ENST00000381070.7:c.943G>T ENSP00000370460.2:p.Glu315Ter
ENST00000545000.1:n.135G>T
NM_001297644.1:c.943G>T NP_001284573.1:p.Glu315Ter
NM_005869.3:c.943G>T NP_005860.2:p.Glu315Ter
XM_011543095.1:c.943G>T XP_011541397.1:p.Glu315Ter
NM_001364478.1:c.943G>T NP_001351407.1:p.Glu315Ter
XM_011543095.3:c.943G>T XP_011541397.2:p.Glu315Ter
NM_005869.4:c.943G>T MANE Select NP_005860.2:p.Glu315Ter