Canonical Allele Identifier: CA530090468

Gene:

Linked Data

• dbSNP Id: rs1301362530
• gnomAD v2: 1-248496791-C-A
• gnomAD v3: 1-248333489-C-A
• gnomAD v4: 1-248333489-C-A
• MyVariant Identifiers: chr1:g.248496791C>A (hg19) ; chr1:g.248333489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.248333489C>A , CM000663.2:g.248333489C>A	GRCh38
NC_000001.10:g.248496791C>A , CM000663.1:g.248496791C>A	GRCh37
NC_000001.9:g.246563414C>A	NCBI36