Canonical Allele Identifier: CA345440131

Gene: FH

Linked Data

• ClinVar Variation Id: 824730
• ClinVar RCV Id: RCV001022160 ; RCV002550874
• dbSNP Id: rs1573885503
• MyVariant Identifiers: chr1:g.241675397T>C (hg19) ; chr1:g.241512097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512097T>C , CM000663.2:g.241512097T>C	GRCh38
NC_000001.10:g.241675397T>C , CM000663.1:g.241675397T>C	GRCh37
NC_000001.9:g.239742020T>C	NCBI36
NG_012338.1:g.12658A>G , LRG_504:g.12658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.928A>G
ENST00000682162.1:c.454A>G	ENSP00000508203.1:n.454A>G
ENST00000682567.1:n.502A>G
ENST00000683521.1:c.425A>G	ENSP00000506864.1:p.Gln142Arg
ENST00000684483.1:c.425A>G	ENSP00000507894.1:p.Gln142Arg
ENST00000366560.4:c.425A>G MANE Select	ENSP00000355518.4:p.Gln142Arg
ENST00000366560.3:c.425A>G	ENSP00000355518.3:p.Gln142Arg
ENST00000497042.1:n.121A>G
NM_000143.3:c.425A>G , LRG_504t1:c.425A>G	NP_000134.2:p.Gln142Arg
XM_011544132.1:c.197A>G	XP_011542434.1:p.Gln66Arg
XM_011544132.2:c.197A>G	XP_011542434.1:p.Gln66Arg
NM_000143.4:c.425A>G MANE Select	NP_000134.2:p.Gln142Arg