Canonical Allele Identifier: CA299344138

Gene:

Linked Data

• dbSNP Id: rs1018125004
• gnomAD v2: 18-39057771-G-A
• gnomAD v3: 18-41477807-G-A
• gnomAD v4: 18-41477807-G-A
• MyVariant Identifiers: chr18:g.39057771G>A (hg19) ; chr18:g.41477807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477807G>A , CM000680.2:g.41477807G>A	GRCh38
NC_000018.9:g.39057771G>A , CM000680.1:g.39057771G>A	GRCh37
NC_000018.8:g.37311769G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935409.1:n.86-26327G>A