Canonical Allele Identifier: CA280996486

Gene:

Linked Data

• dbSNP Id: rs944841671
• gnomAD v2: 16-49142682-G-A
• gnomAD v3: 16-49108771-G-A
• gnomAD v4: 16-49108771-G-A
• MyVariant Identifiers: chr16:g.49142682G>A (hg19) ; chr16:g.49108771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108771G>A , CM000678.2:g.49108771G>A	GRCh38
NC_000016.9:g.49142682G>A , CM000678.1:g.49142682G>A	GRCh37
NC_000016.8:g.47700183G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1173C>T
XR_001752138.2:n.591+5205C>T
XR_933517.2:n.810+1173C>T