Canonical Allele Identifier: CA280996448

Gene:

Linked Data

• dbSNP Id: rs758763029
• gnomAD v3: 16-49108527-C-G
• gnomAD v4: 16-49108527-C-G
• MyVariant Identifiers: chr16:g.49142438C>G (hg19) ; chr16:g.49108527C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108527C>G , CM000678.2:g.49108527C>G	GRCh38
NC_000016.9:g.49142438C>G , CM000678.1:g.49142438C>G	GRCh37
NC_000016.8:g.47699939C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1417G>C
XR_001752138.2:n.591+5449G>C
XR_933517.2:n.810+1417G>C