Canonical Allele Identifier: CA320623

Gene: FH

Linked Data

• ClinVar Variation Id: 214399
• ClinVar RCV Id: RCV000196197 ; RCV000445586 ; RCV000493004 ; RCV003462308
• dbSNP Id: rs756469140
• ExAC: 1:241667363 GTTCA / G
• gnomAD v4: 1-241504063-GTTCA-G
• MyVariant Identifiers: chr1:g.241667364_241667367del (hg19) ; chr1:g.241504064_241504067del (hg38)
• PubMed: PMID:14632190 ; PMID:15663510 ; PMID:15761418 ; PMID:24441663 ; PMID:25750977

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504066_241504069del , CM000663.2:g.241504066_241504069del	GRCh38
NC_000001.10:g.241667366_241667369del , CM000663.1:g.241667366_241667369del	GRCh37
NC_000001.9:g.239733989_239733992del	NCBI36
NG_012338.1:g.20688_20691del , LRG_504:g.20688_20691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1586_1589del
ENST00000682162.1:c.1112_1115del	ENSP00000508203.1:n.1112_1115del
ENST00000682567.1:n.1160_1163del
ENST00000683521.1:c.1083_1086del	ENSP00000506864.1:p.Glu362GlnfsTer10
ENST00000684161.1:n.2298_2301del
ENST00000684483.1:c.*479_*482del	ENSP00000507894.1:n.*479_*482del
ENST00000366560.4:c.1083_1086del MANE Select	ENSP00000355518.4:p.Glu362GlnfsTer10
ENST00000366560.3:c.1083_1086del	ENSP00000355518.3:p.Glu362GlnfsTer10
NM_000143.3:c.1083_1086del , LRG_504t1:c.1083_1086del	NP_000134.2:p.Glu362GlnfsTer10
XM_011544132.1:c.855_858del	XP_011542434.1:p.Glu286GlnfsTer10
XM_011544132.2:c.855_858del	XP_011542434.1:p.Glu286GlnfsTer10
NM_000143.4:c.1083_1086del MANE Select	NP_000134.2:p.Glu362GlnfsTer10