Canonical Allele Identifier: CA278115105

Gene:

Linked Data

• dbSNP Id: rs746367022
• gnomAD v2: 16-9343308-A-G
• gnomAD v3: 16-9249451-A-G
• gnomAD v4: 16-9249451-A-G
• MyVariant Identifiers: chr16:g.9343308A>G (hg19) ; chr16:g.9249451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249451A>G , CM000678.2:g.9249451A>G	GRCh38
NC_000016.9:g.9343308A>G , CM000678.1:g.9343308A>G	GRCh37
NC_000016.8:g.9250809A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64718A>G