Canonical Allele Identifier: CA424075743

Gene: FH

Linked Data

• ClinVar Variation Id: 529835
• ClinVar RCV Id: RCV002424393 ; RCV002528881
• dbSNP Id: rs1553341008
• gnomAD v4: 1-241504064-T-C
• MyVariant Identifiers: chr1:g.241667364T>C (hg19) ; chr1:g.241504064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504064T>C , CM000663.2:g.241504064T>C	GRCh38
NC_000001.10:g.241667364T>C , CM000663.1:g.241667364T>C	GRCh37
NC_000001.9:g.239733987T>C	NCBI36
NG_012338.1:g.20691A>G , LRG_504:g.20691A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1589A>G
ENST00000682162.1:c.1115A>G	ENSP00000508203.1:n.1115A>G
ENST00000682567.1:n.1163A>G
ENST00000683521.1:c.1086A>G	ENSP00000506864.1:p.Glu362=
ENST00000684161.1:n.2301A>G
ENST00000684483.1:c.*482A>G	ENSP00000507894.1:n.*482A>G
ENST00000366560.4:c.1086A>G MANE Select	ENSP00000355518.4:p.Glu362=
ENST00000366560.3:c.1086A>G	ENSP00000355518.3:p.Glu362=
NM_000143.3:c.1086A>G , LRG_504t1:c.1086A>G	NP_000134.2:p.Glu362=
XM_011544132.1:c.858A>G	XP_011542434.1:p.Glu286=
XM_011544132.2:c.858A>G	XP_011542434.1:p.Glu286=
NM_000143.4:c.1086A>G MANE Select	NP_000134.2:p.Glu362=