Canonical Allele Identifier: CA622439628

Gene:

Linked Data

• dbSNP Id: rs970992792
• gnomAD v2: 16-49142608-C-A
• MyVariant Identifiers: chr16:g.49142608C>A (hg19) ; chr16:g.49108697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108697C>A , CM000678.2:g.49108697C>A	GRCh38
NC_000016.9:g.49142608C>A , CM000678.1:g.49142608C>A	GRCh37
NC_000016.8:g.47700109C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1247G>T
XR_001752138.2:n.591+5279G>T
XR_933517.2:n.810+1247G>T