Canonical Allele Identifier: CA890964358

Gene: FIRRM

Linked Data

• dbSNP Id: rs1305421090
• gnomAD v3: 1-169681827-T-A
• gnomAD v4: 1-169681827-T-A
• MyVariant Identifiers: chr1:g.169650968T>A (hg19) ; chr1:g.169681827T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169681827T>A , CM000663.2:g.169681827T>A	GRCh38
NC_000001.10:g.169650968T>A , CM000663.1:g.169650968T>A	GRCh37
NC_000001.9:g.167917592T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000498289.5:n.518-1642T>A
XR_001738282.1:n.274-1565T>A