Canonical Allele Identifier: CA345439212

Gene: FH

Linked Data

• ClinVar Variation Id: 844336
• ClinVar RCV Id: RCV001784597 ; RCV002365686
• dbSNP Id: rs1659990191
• COSMIC: COSM906407
• MyVariant Identifiers: chr1:g.241671937T>C (hg19) ; chr1:g.241508637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508637T>C , CM000663.2:g.241508637T>C	GRCh38
NC_000001.10:g.241671937T>C , CM000663.1:g.241671937T>C	GRCh37
NC_000001.9:g.239738560T>C	NCBI36
NG_012338.1:g.16118A>G , LRG_504:g.16118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1207A>G
ENST00000682162.1:c.733A>G	ENSP00000508203.1:n.733A>G
ENST00000682567.1:n.781A>G
ENST00000683521.1:c.704A>G	ENSP00000506864.1:p.His235Arg
ENST00000684161.1:n.1919A>G
ENST00000684483.1:c.*100A>G	ENSP00000507894.1:n.*100A>G
ENST00000366560.4:c.704A>G MANE Select	ENSP00000355518.4:p.His235Arg
ENST00000366560.3:c.704A>G	ENSP00000355518.3:p.His235Arg
NM_000143.3:c.704A>G , LRG_504t1:c.704A>G	NP_000134.2:p.His235Arg
XM_011544132.1:c.476A>G	XP_011542434.1:p.His159Arg
XM_011544132.2:c.476A>G	XP_011542434.1:p.His159Arg
NM_000143.4:c.704A>G MANE Select	NP_000134.2:p.His235Arg