Canonical Allele Identifier: CA14624021

Gene:

Linked Data

• dbSNP Id: rs2848745
• gnomAD v2: 18-39057725-G-C
• gnomAD v3: 18-41477761-G-C
• gnomAD v4: 18-41477761-G-C
• MyVariant Identifiers: chr18:g.39057725G>C (hg19) ; chr18:g.41477761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477761G>C , CM000680.2:g.41477761G>C	GRCh38
NC_000018.9:g.39057725G>C , CM000680.1:g.39057725G>C	GRCh37
NC_000018.8:g.37311723G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935409.1:n.86-26373G>C