Canonical Allele Identifier: CA185736861
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs148625547
gnomAD v3: 8-127401141-G-C
gnomAD v4: 8-127401141-G-C
MyVariant Identifiers: chr8:g.128413386G>C (hg19) chr8:g.127401141G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401141G>C , CM000670.2:g.127401141G>C GRCh38
NC_000008.10:g.128413386G>C , CM000670.1:g.128413386G>C GRCh37
NC_000008.9:g.128482568G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13747G>C (POU5F1B) ENSP00000495779.1:n.-559-13747G>C
NR_109834.1:n.743G>C (CCAT2)
NR_117100.1:n.1176+19688C>G (CASC8)
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