Canonical Allele Identifier: CA530090462

Gene:

Linked Data

• dbSNP Id: rs1488360840
• gnomAD v2: 1-248496725-G-C
• gnomAD v3: 1-248333423-G-C
• gnomAD v4: 1-248333423-G-C
• MyVariant Identifiers: chr1:g.248496725G>C (hg19) ; chr1:g.248333423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.248333423G>C , CM000663.2:g.248333423G>C	GRCh38
NC_000001.10:g.248496725G>C , CM000663.1:g.248496725G>C	GRCh37
NC_000001.9:g.246563348G>C	NCBI36