Canonical Allele Identifier: CA280996446

Gene:

Linked Data

• dbSNP Id: rs978893451
• MyVariant Identifiers: chr16:g.49142417C>T (hg19) ; chr16:g.49108506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108506C>T , CM000678.2:g.49108506C>T	GRCh38
NC_000016.9:g.49142417C>T , CM000678.1:g.49142417C>T	GRCh37
NC_000016.8:g.47699918C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1438G>A
XR_001752138.2:n.591+5470G>A
XR_933517.2:n.810+1438G>A