Canonical Allele Identifier: CA622439615

Gene:

Linked Data

• dbSNP Id: rs1260897341
• gnomAD v2: 16-49142429-A-G
• gnomAD v3: 16-49108518-A-G
• gnomAD v4: 16-49108518-A-G
• MyVariant Identifiers: chr16:g.49142429A>G (hg19) ; chr16:g.49108518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108518A>G , CM000678.2:g.49108518A>G	GRCh38
NC_000016.9:g.49142429A>G , CM000678.1:g.49142429A>G	GRCh37
NC_000016.8:g.47699930A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1426T>C
XR_001752138.2:n.591+5458T>C
XR_933517.2:n.810+1426T>C