Canonical Allele Identifier: CA16609372
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393568
ClinVar RCV Id: RCV000445627 RCV000563738 RCV002526368
dbSNP Id: rs1060499635
MyVariant Identifiers: chr1:g.241672058_241672063del (hg19) chr1:g.241508758_241508763del (hg38)
PubMed: PMID:22982371 PMID:24419633
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508759_241508764del , CM000663.2:g.241508759_241508764del GRCh38
NC_000001.10:g.241672059_241672064del , CM000663.1:g.241672059_241672064del GRCh37
NC_000001.9:g.239738682_239738687del NCBI36
NG_012338.1:g.15992_15997del , LRG_504:g.15992_15997del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1081_1086del
ENST00000682162.1:c.607_612del ENSP00000508203.1:n.607_612del
ENST00000682567.1:n.655_660del
ENST00000683521.1:c.578_583del ENSP00000506864.1:p.Thr193_Ala194del
ENST00000684161.1:n.1793_1798del
ENST00000684483.1:c.556-3_558del
ENST00000366560.4:c.578_583del MANE Select ENSP00000355518.4:p.Thr193_Ala194del
ENST00000366560.3:c.578_583del ENSP00000355518.3:p.Thr193_Ala194del
NM_000143.3:c.578_583del , LRG_504t1:c.578_583del NP_000134.2:p.Thr193_Ala194del
XM_011544132.1:c.350_355del XP_011542434.1:p.Thr117_Ala118del
XM_011544132.2:c.350_355del XP_011542434.1:p.Thr117_Ala118del
NM_000143.4:c.578_583del MANE Select NP_000134.2:p.Thr193_Ala194del
Search 100 bp 5'
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