Canonical Allele Identifier: CA424076325

Gene: FH

Linked Data

• ClinVar Variation Id: 1739514
• ClinVar RCV Id: RCV002330289
• dbSNP Id: rs1660100764
• MyVariant Identifiers: chr1:g.241675393A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512093A>G , CM000663.2:g.241512093A>G	GRCh38
NC_000001.10:g.241675393A>G , CM000663.1:g.241675393A>G	GRCh37
NC_000001.9:g.239742016A>G	NCBI36
NG_012338.1:g.12662T>C , LRG_504:g.12662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.932T>C
ENST00000682162.1:c.458T>C	ENSP00000508203.1:n.458T>C
ENST00000682567.1:n.506T>C
ENST00000683521.1:c.429T>C	ENSP00000506864.1:p.Thr143=
ENST00000684483.1:c.429T>C	ENSP00000507894.1:p.Thr143=
ENST00000366560.4:c.429T>C MANE Select	ENSP00000355518.4:p.Thr143=
ENST00000366560.3:c.429T>C	ENSP00000355518.3:p.Thr143=
ENST00000497042.1:n.125T>C
NM_000143.3:c.429T>C , LRG_504t1:c.429T>C	NP_000134.2:p.Thr143=
XM_011544132.1:c.201T>C	XP_011542434.1:p.Thr67=
XM_011544132.2:c.201T>C	XP_011542434.1:p.Thr67=
NM_000143.4:c.429T>C MANE Select	NP_000134.2:p.Thr143=