Canonical Allele Identifier: CA345443111

Gene: FH

Linked Data

• ClinVar Variation Id: 529803
• ClinVar RCV Id: RCV002358784 ; RCV002529839 ; RCV003459516
• dbSNP Id: rs1553342167
• gnomAD v3: 1-241519718-T-C
• gnomAD v4: 1-241519718-T-C
• MyVariant Identifiers: chr1:g.241683018T>C (hg19) ; chr1:g.241519718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519718T>C , CM000663.2:g.241519718T>C	GRCh38
NC_000001.10:g.241683018T>C , CM000663.1:g.241683018T>C	GRCh37
NC_000001.9:g.239749641T>C	NCBI36
NG_012338.1:g.5037A>G , LRG_504:g.5037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682162.1:c.5A>G	ENSP00000508203.1:p.Tyr2Cys
ENST00000682567.1:n.82A>G
ENST00000683521.1:c.5A>G	ENSP00000506864.1:p.Tyr2Cys
ENST00000684483.1:c.5A>G	ENSP00000507894.1:p.Tyr2Cys
ENST00000366560.4:c.5A>G MANE Select	ENSP00000355518.4:p.Tyr2Cys
ENST00000366560.3:c.5A>G	ENSP00000355518.3:p.Tyr2Cys
NM_000143.3:c.5A>G , LRG_504t1:c.5A>G	NP_000134.2:p.Tyr2Cys
NM_000143.4:c.5A>G MANE Select	NP_000134.2:p.Tyr2Cys