Canonical Allele Identifier: CA629613497

Gene:

Linked Data

• dbSNP Id: rs1207606628
• gnomAD v2: 18-39057653-A-G
• gnomAD v3: 18-41477689-A-G
• gnomAD v4: 18-41477689-A-G
• MyVariant Identifiers: chr18:g.39057653A>G (hg19) ; chr18:g.41477689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477689A>G , CM000680.2:g.41477689A>G	GRCh38
NC_000018.9:g.39057653A>G , CM000680.1:g.39057653A>G	GRCh37
NC_000018.8:g.37311651A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935409.1:n.86-26445A>G