Canonical Allele Identifier: CA424076283

Gene: FH

Linked Data

• ClinVar Variation Id: 1744996
• ClinVar RCV Id: RCV002351421
• MyVariant Identifiers: chr1:g.241675318T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512018T>C , CM000663.2:g.241512018T>C	GRCh38
NC_000001.10:g.241675318T>C , CM000663.1:g.241675318T>C	GRCh37
NC_000001.9:g.239741941T>C	NCBI36
NG_012338.1:g.12737A>G , LRG_504:g.12737A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1007A>G
ENST00000682162.1:c.533A>G	ENSP00000508203.1:n.533A>G
ENST00000682567.1:n.581A>G
ENST00000683521.1:c.504A>G	ENSP00000506864.1:p.Glu168=
ENST00000684483.1:c.504A>G	ENSP00000507894.1:p.Glu168=
ENST00000366560.4:c.504A>G MANE Select	ENSP00000355518.4:p.Glu168=
ENST00000366560.3:c.504A>G	ENSP00000355518.3:p.Glu168=
ENST00000497042.1:n.200A>G
NM_000143.3:c.504A>G , LRG_504t1:c.504A>G	NP_000134.2:p.Glu168=
XM_011544132.1:c.276A>G	XP_011542434.1:p.Glu92=
XM_011544132.2:c.276A>G	XP_011542434.1:p.Glu92=
NM_000143.4:c.504A>G MANE Select	NP_000134.2:p.Glu168=