Canonical Allele Identifier: CA645369175

Gene: FH

Linked Data

• ClinVar Variation Id: 429185
• ClinVar RCV Id: RCV000494321 ; RCV002524010
• dbSNP Id: rs1131691246
• MyVariant Identifiers: chr1:g.241680572_241680575dup (hg19) ; chr1:g.241680571_241680572insTTCA (hg19) ; chr1:g.241517272_241517275dup (hg38) ; chr1:g.241517271_241517272insTTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517272_241517275dup , CM000663.2:g.241517272_241517275dup	GRCh38
NC_000001.10:g.241680572_241680575dup , CM000663.1:g.241680572_241680575dup	GRCh37
NC_000001.9:g.239747195_239747198dup	NCBI36
NG_012338.1:g.7480_7483dup , LRG_504:g.7480_7483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.677_680dup
ENST00000682162.1:c.203_206dup	ENSP00000508203.1:n.203_206dup
ENST00000682567.1:n.251_254dup
ENST00000683521.1:c.174_177dup	ENSP00000506864.1:p.Leu60Ter
ENST00000684483.1:c.174_177dup	ENSP00000507894.1:p.Leu60Ter
ENST00000366560.4:c.174_177dup MANE Select	ENSP00000355518.4:p.Leu60Ter
ENST00000366560.3:c.174_177dup	ENSP00000355518.3:p.Leu60Ter
ENST00000493477.1:n.287_290dup
NM_000143.3:c.174_177dup , LRG_504t1:c.174_177dup	NP_000134.2:p.Leu60Ter
XM_011544132.1:c.-55_-52dup	XP_011542434.1:n.-55_-52dup
XM_011544132.2:c.-55_-52dup	XP_011542434.1:n.-55_-52dup
NM_000143.4:c.174_177dup MANE Select	NP_000134.2:p.Leu60Ter