Canonical Allele Identifier: CA345439924

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675305T>G (hg19) ; chr1:g.241512005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512005T>G , CM000663.2:g.241512005T>G	GRCh38
NC_000001.10:g.241675305T>G , CM000663.1:g.241675305T>G	GRCh37
NC_000001.9:g.239741928T>G	NCBI36
NG_012338.1:g.12750A>C , LRG_504:g.12750A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1020A>C
ENST00000682162.1:c.546A>C	ENSP00000508203.1:n.546A>C
ENST00000682567.1:n.594A>C
ENST00000683521.1:c.517A>C	ENSP00000506864.1:p.Ile173Leu
ENST00000684483.1:c.517A>C	ENSP00000507894.1:p.Ile173Leu
ENST00000366560.4:c.517A>C MANE Select	ENSP00000355518.4:p.Ile173Leu
ENST00000366560.3:c.517A>C	ENSP00000355518.3:p.Ile173Leu
ENST00000497042.1:n.213A>C
NM_000143.3:c.517A>C , LRG_504t1:c.517A>C	NP_000134.2:p.Ile173Leu
XM_011544132.1:c.289A>C	XP_011542434.1:p.Ile97Leu
XM_011544132.2:c.289A>C	XP_011542434.1:p.Ile97Leu
NM_000143.4:c.517A>C MANE Select	NP_000134.2:p.Ile173Leu