Canonical Allele Identifier: CA725798512

Gene:

Linked Data

• dbSNP Id: rs1444487101
• gnomAD v3: 16-9249623-T-C
• gnomAD v4: 16-9249623-T-C
• MyVariant Identifiers: chr16:g.9343480T>C (hg19) ; chr16:g.9249623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249623T>C , CM000678.2:g.9249623T>C	GRCh38
NC_000016.9:g.9343480T>C , CM000678.1:g.9343480T>C	GRCh37
NC_000016.8:g.9250981T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64890T>C