Canonical Allele Identifier: CA280996471

Gene:

Linked Data

• dbSNP Id: rs529760582
• gnomAD v3: 16-49108696-C-T
• gnomAD v4: 16-49108696-C-T
• MyVariant Identifiers: chr16:g.49142607C>T (hg19) ; chr16:g.49108696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108696C>T , CM000678.2:g.49108696C>T	GRCh38
NC_000016.9:g.49142607C>T , CM000678.1:g.49142607C>T	GRCh37
NC_000016.8:g.47700108C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1248G>A
XR_001752138.2:n.591+5280G>A
XR_933517.2:n.810+1248G>A