Canonical Allele Identifier: CA730997260

Gene:

Linked Data

• dbSNP Id: rs1449776809
• gnomAD v3: 1-211379711-A-G
• gnomAD v4: 1-211379711-A-G
• MyVariant Identifiers: chr1:g.211553053A>G (hg19) ; chr1:g.211379711A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379711A>G , CM000663.2:g.211379711A>G	GRCh38
NC_000001.10:g.211553053A>G , CM000663.1:g.211553053A>G	GRCh37
NC_000001.9:g.209619676A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738446.1:n.291+2484T>C