Canonical Allele Identifier: CA891843180

Gene: FH

Linked Data

• ClinVar Variation Id: 583198
• ClinVar RCV Id: RCV002532876
• dbSNP Id: rs1558402255
• MyVariant Identifiers: chr1:g.241680561_241680564dup (hg19) ; chr1:g.241517261_241517264dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517261_241517264dup , CM000663.2:g.241517261_241517264dup	GRCh38
NC_000001.10:g.241680561_241680564dup , CM000663.1:g.241680561_241680564dup	GRCh37
NC_000001.9:g.239747184_239747187dup	NCBI36
NG_012338.1:g.7491_7494dup , LRG_504:g.7491_7494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.688_691dup
ENST00000682162.1:c.214_217dup	ENSP00000508203.1:n.214_217dup
ENST00000682567.1:n.262_265dup
ENST00000683521.1:c.185_188dup	ENSP00000506864.1:p.Asn64AlafsTer3
ENST00000684483.1:c.185_188dup	ENSP00000507894.1:p.Asn64AlafsTer3
ENST00000366560.4:c.185_188dup MANE Select	ENSP00000355518.4:p.Asn64AlafsTer3
ENST00000366560.3:c.185_188dup	ENSP00000355518.3:p.Asn64AlafsTer3
ENST00000493477.1:n.298_301dup
NM_000143.3:c.185_188dup , LRG_504t1:c.185_188dup	NP_000134.2:p.Asn64AlafsTer3
XM_011544132.1:c.-44_-41dup	XP_011542434.1:n.-44_-41dup
XM_011544132.2:c.-44_-41dup	XP_011542434.1:n.-44_-41dup
NM_000143.4:c.185_188dup MANE Select	NP_000134.2:p.Asn64AlafsTer3