Canonical Allele Identifier: CA16609368
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393572
ClinVar RCV Id: RCV000445636
dbSNP Id: rs1060499637
MyVariant Identifiers: chr1:g.241669399del (hg19) chr1:g.241506099del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241506099del , CM000663.2:g.241506099del GRCh38
NC_000001.10:g.241669399del , CM000663.1:g.241669399del GRCh37
NC_000001.9:g.239736022del NCBI36
NG_012338.1:g.18656del , LRG_504:g.18656del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1311del
ENST00000682162.1:c.837del ENSP00000508203.1:n.837del
ENST00000682567.1:n.885del
ENST00000683521.1:c.808del ENSP00000506864.1:p.Tyr270MetfsTer14
ENST00000684161.1:n.2023del
ENST00000684483.1:c.*204del ENSP00000507894.1:n.*204del
ENST00000366560.4:c.808del MANE Select ENSP00000355518.4:p.Tyr270MetfsTer14
ENST00000366560.3:c.808del ENSP00000355518.3:p.Tyr270MetfsTer14
NM_000143.3:c.808del , LRG_504t1:c.808del NP_000134.2:p.Tyr270MetfsTer14
XM_011544132.1:c.580del XP_011542434.1:p.Tyr194MetfsTer14
XM_011544132.2:c.580del XP_011542434.1:p.Tyr194MetfsTer14
NM_000143.4:c.808del MANE Select NP_000134.2:p.Tyr270MetfsTer14
Search 100 bp 5'
Search 100 bp 3'