Canonical Allele Identifier: CA188145892

Gene:

Linked Data

• dbSNP Id: rs571598884
• gnomAD v3: 9-1787694-C-T
• gnomAD v4: 9-1787694-C-T
• COSMIC: COSN9279763
• MyVariant Identifiers: chr9:g.1787694C>T (hg19) ; chr9:g.1787694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.1787694C>T , CM000671.2:g.1787694C>T	GRCh38
NC_000009.11:g.1787694C>T , CM000671.1:g.1787694C>T	GRCh37
NC_000009.10:g.1777694C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746599.1:n.142+68782C>T