Canonical Allele Identifier: CA585068473
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1362283472
gnomAD v2: 8-128413272-C-A
gnomAD v3: 8-127401027-C-A
gnomAD v4: 8-127401027-C-A
MyVariant Identifiers: chr8:g.128413272C>A (hg19) chr8:g.127401027C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401027C>A , CM000670.2:g.127401027C>A GRCh38
NC_000008.10:g.128413272C>A , CM000670.1:g.128413272C>A GRCh37
NC_000008.9:g.128482454C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-13861C>A (POU5F1B) ENSP00000495779.1:n.-559-13861C>A
NR_109834.1:n.629C>A (CCAT2)
NR_117100.1:n.1176+19802G>T (CASC8)
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