Canonical Allele Identifier: CA299344118

Gene:

Linked Data

• dbSNP Id: rs1045577744
• gnomAD v3: 18-41477647-G-A
• gnomAD v4: 18-41477647-G-A
• MyVariant Identifiers: chr18:g.39057611G>A (hg19) ; chr18:g.41477647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477647G>A , CM000680.2:g.41477647G>A	GRCh38
NC_000018.9:g.39057611G>A , CM000680.1:g.39057611G>A	GRCh37
NC_000018.8:g.37311609G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935409.1:n.86-26487G>A