Canonical Allele Identifier: CA424076603

Gene: FH

Linked Data

• ClinVar Variation Id: 1802818
• ClinVar RCV Id: RCV002466093 ; RCV002569350 ; RCV003164723
• dbSNP Id: rs2147925227
• MyVariant Identifiers: chr1:g.241680563C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517263C>T , CM000663.2:g.241517263C>T	GRCh38
NC_000001.10:g.241680563C>T , CM000663.1:g.241680563C>T	GRCh37
NC_000001.9:g.239747186C>T	NCBI36
NG_012338.1:g.7492G>A , LRG_504:g.7492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.689G>A
ENST00000682162.1:c.215G>A	ENSP00000508203.1:n.215G>A
ENST00000682567.1:n.263G>A
ENST00000683521.1:c.186G>A	ENSP00000506864.1:p.Val62=
ENST00000684483.1:c.186G>A	ENSP00000507894.1:p.Val62=
ENST00000366560.4:c.186G>A MANE Select	ENSP00000355518.4:p.Val62=
ENST00000366560.3:c.186G>A	ENSP00000355518.3:p.Val62=
ENST00000493477.1:n.299G>A
NM_000143.3:c.186G>A , LRG_504t1:c.186G>A	NP_000134.2:p.Val62=
XM_011544132.1:c.-43G>A	XP_011542434.1:n.-43G>A
XM_011544132.2:c.-43G>A	XP_011542434.1:n.-43G>A
NM_000143.4:c.186G>A MANE Select	NP_000134.2:p.Val62=