Canonical Allele Identifier: CA1818352164

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400994T>C , CM000670.2:g.127400994T>C GRCh38
NC_000008.10:g.128413239T>C , CM000670.1:g.128413239T>C GRCh37
NC_000008.9:g.128482421T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-13894T>C ENSP00000495779.1:p.=
NR_109834.1:n.596T>C (CCAT2)
NR_117100.1:n.1176+19835A>G (CASC8)