Canonical Allele Identifier: CA320847
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 214402
ClinVar RCV Id: RCV000196430
dbSNP Id: rs863223989
MyVariant Identifiers: chr1:g.241663864del (hg19) chr1:g.241500564del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500565del , CM000663.2:g.241500565del GRCh38
NC_000001.10:g.241663865del , CM000663.1:g.241663865del GRCh37
NC_000001.9:g.239730488del NCBI36
NG_012338.1:g.24191del , LRG_504:g.24191del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1766del
ENST00000682162.1:c.1292del ENSP00000508203.1:n.1292del
ENST00000682567.1:n.4663del
ENST00000683521.1:c.1263del ENSP00000506864.1:p.Arg421SerfsTer28
ENST00000684161.1:n.2478del
ENST00000684483.1:c.*659del ENSP00000507894.1:n.*659del
ENST00000366560.4:c.1263del MANE Select ENSP00000355518.4:p.Arg421SerfsTer28
ENST00000366560.3:c.1263del ENSP00000355518.3:p.Arg421SerfsTer28
NM_000143.3:c.1263del , LRG_504t1:c.1263del NP_000134.2:p.Arg421SerfsTer28
XM_011544132.1:c.1035del XP_011542434.1:p.Arg345SerfsTer28
XM_011544132.2:c.1035del XP_011542434.1:p.Arg345SerfsTer28
NM_000143.4:c.1263del MANE Select NP_000134.2:p.Arg421SerfsTer28
Search 100 bp 5'
Search 100 bp 3'