Canonical Allele Identifier: CA287352442
Gene: C17orf100 HGNC NCBI

Linked Data

dbSNP Id: rs866362918
gnomAD v2: 17-6559872-C-T
gnomAD v3: 17-6656553-C-T
gnomAD v4: 17-6656553-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6656553C>T , CM000679.2:g.6656553C>T GRCh38
NC_000017.10:g.6559872C>T , CM000679.1:g.6559872C>T GRCh37
NC_000017.9:g.6500596C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000634977.1:n.431+3959C>T
ENST00000635042.1:n.724+3959C>T