Canonical Allele Identifier: CA32442814

Gene: FIRRM

Linked Data

• dbSNP Id: rs182712292
• gnomAD v2: 1-169650950-A-G
• gnomAD v3: 1-169681809-A-G
• gnomAD v4: 1-169681809-A-G
• MyVariant Identifiers: chr1:g.169650950A>G (hg19) ; chr1:g.169681809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169681809A>G , CM000663.2:g.169681809A>G	GRCh38
NC_000001.10:g.169650950A>G , CM000663.1:g.169650950A>G	GRCh37
NC_000001.9:g.167917574A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000498289.5:n.518-1660A>G
XR_001738282.1:n.274-1583A>G