Canonical Allele Identifier: CA278115130

Gene:

Linked Data

• dbSNP Id: rs142416431
• gnomAD v3: 16-9249667-T-C
• gnomAD v4: 16-9249667-T-C
• MyVariant Identifiers: chr16:g.9343524T>C (hg19) ; chr16:g.9249667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249667T>C , CM000678.2:g.9249667T>C	GRCh38
NC_000016.9:g.9343524T>C , CM000678.1:g.9343524T>C	GRCh37
NC_000016.8:g.9251025T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64934T>C