Canonical Allele Identifier: CA321448

Gene: FH

Linked Data

• ClinVar Variation Id: 2605793
• ClinVar RCV Id: RCV003369066
• dbSNP Id: rs1553340891
• MyVariant Identifiers: chr1:g.241665867T>C (hg19) ; chr1:g.241502567T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502567T>C , CM000663.2:g.241502567T>C	GRCh38
NC_000001.10:g.241665867T>C , CM000663.1:g.241665867T>C	GRCh37
NC_000001.9:g.239732490T>C	NCBI36
NG_012338.1:g.22188A>G , LRG_504:g.22188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1615A>G
ENST00000682162.1:c.1141A>G	ENSP00000508203.1:n.1141A>G
ENST00000682567.1:n.2660A>G
ENST00000683521.1:c.1112A>G	ENSP00000506864.1:p.Lys371Arg
ENST00000684161.1:n.2327A>G
ENST00000684483.1:c.*508A>G	ENSP00000507894.1:n.*508A>G
ENST00000366560.4:c.1112A>G MANE Select	ENSP00000355518.4:p.Lys371Arg
ENST00000366560.3:c.1112A>G	ENSP00000355518.3:p.Lys371Arg
NM_000143.3:c.1112A>G , LRG_504t1:c.1112A>G	NP_000134.2:p.Lys371Arg
XM_011544132.1:c.884A>G	XP_011542434.1:p.Lys295Arg
XM_011544132.2:c.884A>G	XP_011542434.1:p.Lys295Arg
NM_000143.4:c.1112A>G MANE Select	NP_000134.2:p.Lys371Arg