Canonical Allele Identifier: CA185736836
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs72550839
gnomAD v2: 8-128413151-T-C
gnomAD v3: 8-127400906-T-C
gnomAD v4: 8-127400906-T-C
MyVariant Identifiers: chr8:g.128413151T>C (hg19) chr8:g.127400906T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400906T>C , CM000670.2:g.127400906T>C GRCh38
NC_000008.10:g.128413151T>C , CM000670.1:g.128413151T>C GRCh37
NC_000008.9:g.128482333T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-13982T>C (POU5F1B) ENSP00000495779.1:n.-559-13982T>C
NR_109834.1:n.508T>C (CCAT2)
NR_117100.1:n.1176+19923A>G (CASC8)
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