Canonical Allele Identifier: CA299344132

Gene:

Linked Data

• dbSNP Id: rs1009761593
• gnomAD v3: 18-41477731-T-C
• gnomAD v4: 18-41477731-T-C
• MyVariant Identifiers: chr18:g.39057695T>C (hg19) ; chr18:g.41477731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477731T>C , CM000680.2:g.41477731T>C	GRCh38
NC_000018.9:g.39057695T>C , CM000680.1:g.39057695T>C	GRCh37
NC_000018.8:g.37311693T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935409.1:n.86-26403T>C