Canonical Allele Identifier: CA10609655

Gene: FH

Linked Data

• ClinVar Variation Id: 296857
• ClinVar RCV Id: RCV000343612 ; RCV000400259
• dbSNP Id: rs113667027
• gnomAD v2: 1-241660862-T-C
• gnomAD v3: 1-241497562-T-C
• gnomAD v4: 1-241497562-T-C
• MyVariant Identifiers: chr1:g.241660862T>C (hg19) ; chr1:g.241497562T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497562T>C , CM000663.2:g.241497562T>C	GRCh38
NC_000001.10:g.241660862T>C , CM000663.1:g.241660862T>C	GRCh37
NC_000001.9:g.239727485T>C	NCBI36
NG_012338.1:g.27193A>G , LRG_504:g.27193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.2302A>G
NM_000143.3:c.*266A>G , LRG_504t1:c.*266A>G	NP_000134.2:n.*266A>G