Canonical Allele Identifier: CA257458

Gene: FH

Linked Data

• ClinVar Variation Id: 16234
• ClinVar RCV Id: RCV000017621 ; RCV002513083
• dbSNP Id: rs780001199
• ExAC: 1:241671968 ACT / A
• gnomAD v2: 1-241671968-ACT-A
• gnomAD v4: 1-241508668-ACT-A
• MyVariant Identifiers: chr1:g.241671969_241671970del (hg19) ; chr1:g.241508669_241508670del (hg38)
• PubMed: PMID:11865300

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508671_241508672del , CM000663.2:g.241508671_241508672del	GRCh38
NC_000001.10:g.241671971_241671972del , CM000663.1:g.241671971_241671972del	GRCh37
NC_000001.9:g.239738594_239738595del	NCBI36
NG_012338.1:g.16085_16086del , LRG_504:g.16085_16086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1174_1175del
ENST00000682162.1:c.700_701del	ENSP00000508203.1:n.700_701del
ENST00000682567.1:n.748_749del
ENST00000683521.1:c.671_672del	ENSP00000506864.1:p.Glu224ValfsTer25
ENST00000684161.1:n.1886_1887del
ENST00000684483.1:c.*67_*68del	ENSP00000507894.1:n.*67_*68del
ENST00000366560.4:c.671_672del MANE Select	ENSP00000355518.4:p.Glu224ValfsTer25
ENST00000366560.3:c.671_672del	ENSP00000355518.3:p.Glu224ValfsTer25
NM_000143.3:c.671_672del , LRG_504t1:c.671_672del	NP_000134.2:p.Glu224ValfsTer25
XM_011544132.1:c.443_444del	XP_011542434.1:p.Glu148ValfsTer25
XM_011544132.2:c.443_444del	XP_011542434.1:p.Glu148ValfsTer25
NM_000143.4:c.671_672del MANE Select	NP_000134.2:p.Glu224ValfsTer25