Canonical Allele Identifier: CA278115108

Gene:

Linked Data

• dbSNP Id: rs183992002
• gnomAD v2: 16-9343326-C-T
• gnomAD v3: 16-9249469-C-T
• gnomAD v4: 16-9249469-C-T
• MyVariant Identifiers: chr16:g.9343326C>T (hg19) ; chr16:g.9249469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249469C>T , CM000678.2:g.9249469C>T	GRCh38
NC_000016.9:g.9343326C>T , CM000678.1:g.9343326C>T	GRCh37
NC_000016.8:g.9250827C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64736C>T