Canonical Allele Identifier: CA622213514

Gene:

Linked Data

• dbSNP Id: rs1474656708
• gnomAD v2: 16-50142974-C-G
• gnomAD v3: 16-50109063-C-G
• gnomAD v4: 16-50109063-C-G
• MyVariant Identifiers: chr16:g.50142974C>G (hg19) ; chr16:g.50109063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50109063C>G , CM000678.2:g.50109063C>G	GRCh38
NC_000016.9:g.50142974C>G , CM000678.1:g.50142974C>G	GRCh37
NC_000016.8:g.48700475C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011523490.1:c.115-2411G>C	XP_011521792.1:n.115-2411G>C