Canonical Allele Identifier: CA345438297

Gene: FH

Linked Data

• ClinVar Variation Id: 529807
• ClinVar RCV Id: RCV002386007 ; RCV003451511 ; RCV002533197
• dbSNP Id: rs1553341037
• gnomAD v4: 1-241504173-C-T
• COSMIC: COSM4563505
• MyVariant Identifiers: chr1:g.241667473C>T (hg19) ; chr1:g.241504173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504173C>T , CM000663.2:g.241504173C>T	GRCh38
NC_000001.10:g.241667473C>T , CM000663.1:g.241667473C>T	GRCh37
NC_000001.9:g.239734096C>T	NCBI36
NG_012338.1:g.20582G>A , LRG_504:g.20582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1480G>A
ENST00000682162.1:c.1006G>A	ENSP00000508203.1:n.1006G>A
ENST00000682567.1:n.1054G>A
ENST00000683521.1:c.977G>A	ENSP00000506864.1:p.Gly326Glu
ENST00000684161.1:n.2192G>A
ENST00000684483.1:c.*373G>A	ENSP00000507894.1:n.*373G>A
ENST00000366560.4:c.977G>A MANE Select	ENSP00000355518.4:p.Gly326Glu
ENST00000366560.3:c.977G>A	ENSP00000355518.3:p.Gly326Glu
NM_000143.3:c.977G>A , LRG_504t1:c.977G>A	NP_000134.2:p.Gly326Glu
XM_011544132.1:c.749G>A	XP_011542434.1:p.Gly250Glu
XM_011544132.2:c.749G>A	XP_011542434.1:p.Gly250Glu
NM_000143.4:c.977G>A MANE Select	NP_000134.2:p.Gly326Glu