Canonical Allele Identifier: CA776019739

Gene:

Linked Data

• dbSNP Id: rs1196188314
• gnomAD v3: 18-10321260-G-A
• gnomAD v4: 18-10321260-G-A
• MyVariant Identifiers: chr18:g.10321257G>A (hg19) ; chr18:g.10321260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10321260G>A , CM000680.2:g.10321260G>A	GRCh38
NC_000018.9:g.10321257G>A , CM000680.1:g.10321257G>A	GRCh37
NC_000018.8:g.10311257G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935138.1:n.665+888C>T
XR_001753344.1:n.650+888C>T
XR_001753345.1:n.861C>T
XR_001753346.1:n.549+888C>T