Canonical Allele Identifier: CA16609370

Gene: FH

Linked Data

• ClinVar Variation Id: 393571
• ClinVar RCV Id: RCV000445612 ; RCV003168712 ; RCV003558385
• dbSNP Id: rs1060499636
• MyVariant Identifiers: chr1:g.241671910A>C (hg19) ; chr1:g.241508610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508610A>C , CM000663.2:g.241508610A>C	GRCh38
NC_000001.10:g.241671910A>C , CM000663.1:g.241671910A>C	GRCh37
NC_000001.9:g.239738533A>C	NCBI36
NG_012338.1:g.16145T>G , LRG_504:g.16145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1234T>G
ENST00000682162.1:c.760T>G	ENSP00000508203.1:n.760T>G
ENST00000682567.1:n.808T>G
ENST00000683521.1:c.731T>G	ENSP00000506864.1:p.Leu244Arg
ENST00000684161.1:n.1946T>G
ENST00000684483.1:c.*127T>G	ENSP00000507894.1:n.*127T>G
ENST00000366560.4:c.731T>G MANE Select	ENSP00000355518.4:p.Leu244Arg
ENST00000366560.3:c.731T>G	ENSP00000355518.3:p.Leu244Arg
NM_000143.3:c.731T>G , LRG_504t1:c.731T>G	NP_000134.2:p.Leu244Arg
XM_011544132.1:c.503T>G	XP_011542434.1:p.Leu168Arg
XM_011544132.2:c.503T>G	XP_011542434.1:p.Leu168Arg
NM_000143.4:c.731T>G MANE Select	NP_000134.2:p.Leu244Arg