Canonical Allele Identifier: CA620931003

Gene:

Linked Data

• dbSNP Id: rs1416434130
• gnomAD v2: 16-9343425-C-T
• MyVariant Identifiers: chr16:g.9343425C>T (hg19) ; chr16:g.9249568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249568C>T , CM000678.2:g.9249568C>T	GRCh38
NC_000016.9:g.9343425C>T , CM000678.1:g.9343425C>T	GRCh37
NC_000016.8:g.9250926C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64835C>T