Canonical Allele Identifier: CA278115090

Gene:

Linked Data

• dbSNP Id: rs757634610
• gnomAD v3: 16-9249360-C-T
• gnomAD v4: 16-9249360-C-T
• MyVariant Identifiers: chr16:g.9343217C>T (hg19) ; chr16:g.9249360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249360C>T , CM000678.2:g.9249360C>T	GRCh38
NC_000016.9:g.9343217C>T , CM000678.1:g.9343217C>T	GRCh37
NC_000016.8:g.9250718C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64627C>T