Canonical Allele Identifier: CA16610045
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 405928
ClinVar RCV Id: RCV001782934
dbSNP Id: rs1060500904
MyVariant Identifiers: chr1:g.241665867del (hg19) chr1:g.241502567del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502568del , CM000663.2:g.241502568del GRCh38
NC_000001.10:g.241665868del , CM000663.1:g.241665868del GRCh37
NC_000001.9:g.239732491del NCBI36
NG_012338.1:g.22188del , LRG_504:g.22188del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1615del
ENST00000682162.1:c.1141del ENSP00000508203.1:n.1141del
ENST00000682567.1:n.2660del
ENST00000683521.1:c.1112del ENSP00000506864.1:p.Lys371ArgfsTer2
ENST00000684161.1:n.2327del
ENST00000684483.1:c.*508del ENSP00000507894.1:n.*508del
ENST00000366560.4:c.1112del MANE Select ENSP00000355518.4:p.Lys371ArgfsTer2
ENST00000366560.3:c.1112del ENSP00000355518.3:p.Lys371ArgfsTer2
NM_000143.3:c.1112del , LRG_504t1:c.1112del NP_000134.2:p.Lys371ArgfsTer2
XM_011544132.1:c.884del XP_011542434.1:p.Lys295ArgfsTer2
XM_011544132.2:c.884del XP_011542434.1:p.Lys295ArgfsTer2
NM_000143.4:c.1112del MANE Select NP_000134.2:p.Lys371ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'