Canonical Allele Identifier: CA185736889
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs746392354
gnomAD v2: 8-128413657-C-T
gnomAD v3: 8-127401412-C-T
gnomAD v4: 8-127401412-C-T
MyVariant Identifiers: chr8:g.128413657C>T (hg19) chr8:g.127401412C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401412C>T , CM000670.2:g.127401412C>T GRCh38
NC_000008.10:g.128413657C>T , CM000670.1:g.128413657C>T GRCh37
NC_000008.9:g.128482839C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13476C>T (POU5F1B) ENSP00000495779.1:n.-559-13476C>T
NR_109834.1:n.1014C>T (CCAT2)
NR_117100.1:n.1176+19417G>A (CASC8)
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