Canonical Allele Identifier: CA280996491

Gene:

Linked Data

• dbSNP Id: rs546596140
• gnomAD v3: 16-49108793-C-A
• gnomAD v4: 16-49108793-C-A
• MyVariant Identifiers: chr16:g.49142704C>A (hg19) ; chr16:g.49108793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108793C>A , CM000678.2:g.49108793C>A	GRCh38
NC_000016.9:g.49142704C>A , CM000678.1:g.49142704C>A	GRCh37
NC_000016.8:g.47700205C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1151G>T
XR_001752138.2:n.591+5183G>T
XR_933517.2:n.810+1151G>T