Canonical Allele Identifier: CA16609369
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393570
dbSNP Id: rs1064792900

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508600_241508619del , CM000663.2:g.241508600_241508619del GRCh38
NC_000001.10:g.241671900_241671919del , CM000663.1:g.241671900_241671919del GRCh37
NC_000001.9:g.239738523_239738542del NCBI36
NG_012338.1:g.16136_16155del , LRG_504:g.16136_16155del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1225_1241+3del
ENST00000682162.1:c.751_767+3del
ENST00000682567.1:n.799_815+3del
ENST00000683521.1:c.722_738+3del
ENST00000684161.1:n.1937_1953+3del
ENST00000684483.1:c.*118_*134+3del
ENST00000366560.4:c.722_738+3del
ENST00000366560.3:c.722_738+3del
NM_000143.3:c.722_738+3del , LRG_504t1:c.722_738+3del
XM_011544132.1:c.494_510+3del
XM_011544132.2:c.494_510+3del
NM_000143.4:c.722_738+3del