Canonical Allele Identifier: CA191356300
Gene: C9orf72 HGNC NCBI

Linked Data

dbSNP Id: rs1036872846
gnomAD v3: 9-27543307-C-A
gnomAD v4: 9-27543307-C-A
MyVariant Identifiers: chr9:g.27543305C>A (hg19) chr9:g.27543307C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27543307C>A , CM000671.2:g.27543307C>A GRCh38
NC_000009.11:g.27543305C>A , CM000671.1:g.27543305C>A GRCh37
NC_000009.10:g.27533305C>A NCBI36
NG_031977.2:g.35560G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673600.1:c.*267+4808G>T ENSP00000500650.1:n.*267+4808G>T
XR_001746639.2:n.838G>T
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