Canonical Allele Identifier: CA299344131

Gene:

Linked Data

• dbSNP Id: rs547921077
• gnomAD v2: 18-39057675-A-G
• gnomAD v3: 18-41477711-A-G
• gnomAD v4: 18-41477711-A-G
• MyVariant Identifiers: chr18:g.39057675A>G (hg19) ; chr18:g.41477711A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477711A>G , CM000680.2:g.41477711A>G	GRCh38
NC_000018.9:g.39057675A>G , CM000680.1:g.39057675A>G	GRCh37
NC_000018.8:g.37311673A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935409.1:n.86-26423A>G