Canonical Allele Identifier: CA560122494
Gene: CWC27 HGNC NCBI

Linked Data

dbSNP Id: rs1348166464
gnomAD v2: 5-64347599-T-C
gnomAD v3: 5-65051772-T-C
gnomAD v4: 5-65051772-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.65051772T>C , CM000667.2:g.65051772T>C GRCh38
NC_000005.9:g.64347599T>C , CM000667.1:g.64347599T>C GRCh37
NC_000005.8:g.64383355T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000693303.1:c.1153-47480T>C ENSP00000508557.1:n.1153-47480T>C