Canonical Allele Identifier: CA185736891
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs959028571
gnomAD v3: 8-127401428-A-C
gnomAD v4: 8-127401428-A-C
MyVariant Identifiers: chr8:g.128413673A>C (hg19) chr8:g.127401428A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401428A>C , CM000670.2:g.127401428A>C GRCh38
NC_000008.10:g.128413673A>C , CM000670.1:g.128413673A>C GRCh37
NC_000008.9:g.128482855A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13460A>C (POU5F1B) ENSP00000495779.1:n.-559-13460A>C
NR_109834.1:n.1030A>C (CCAT2)
NR_117100.1:n.1176+19401T>G (CASC8)
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