Canonical Allele Identifier: CA16609376
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393561
ClinVar RCV Id: RCV000445618
dbSNP Id: rs1060499631
MyVariant Identifiers: chr1:g.241675427del (hg19) chr1:g.241512127del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512128del , CM000663.2:g.241512128del GRCh38
NC_000001.10:g.241675428del , CM000663.1:g.241675428del GRCh37
NC_000001.9:g.239742051del NCBI36
NG_012338.1:g.12628del , LRG_504:g.12628del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.898del
ENST00000682162.1:c.424del ENSP00000508203.1:n.424del
ENST00000682567.1:n.472del
ENST00000683521.1:c.395del ENSP00000506864.1:p.Leu132Ter
ENST00000684483.1:c.395del ENSP00000507894.1:p.Leu132Ter
ENST00000366560.4:c.395del MANE Select ENSP00000355518.4:p.Leu132Ter
ENST00000366560.3:c.395del ENSP00000355518.3:p.Leu132Ter
ENST00000497042.1:n.91del
NM_000143.3:c.395del , LRG_504t1:c.395del NP_000134.2:p.Leu132Ter
XM_011544132.1:c.167del XP_011542434.1:p.Leu56Ter
XM_011544132.2:c.167del XP_011542434.1:p.Leu56Ter
NM_000143.4:c.395del MANE Select NP_000134.2:p.Leu132Ter
Search 100 bp 5'
Search 100 bp 3'