Canonical Allele Identifier: CA2740092649

Gene: FH

Linked Data

• ClinVar Variation Id: 3004226
• ClinVar RCV Id: RCV003865865

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504126_241504135delinsA , CM000663.2:g.241504126_241504135delinsA	GRCh38
NC_000001.10:g.241667426_241667435delinsA , CM000663.1:g.241667426_241667435delinsA	GRCh37
NC_000001.9:g.239734049_239734058delinsA	NCBI36
NG_012338.1:g.20620_20629delinsT , LRG_504:g.20620_20629delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1518_1527delinsT
ENST00000682162.1:c.1044_1053delinsT	ENSP00000508203.1:n.1044_1053delinsT
ENST00000682567.1:n.1092_1101delinsT
ENST00000683521.1:c.1015_1024delinsT	ENSP00000506864.1:p.Ala339_Ile342delinsPhe
ENST00000684161.1:n.2230_2239delinsT
ENST00000684483.1:c.*411_*420delinsT	ENSP00000507894.1:n.*411_*420delinsT
ENST00000366560.4:c.1015_1024delinsT MANE Select	ENSP00000355518.4:p.Ala339_Ile342delinsPhe
ENST00000366560.3:c.1015_1024delinsT	ENSP00000355518.3:p.Ala339_Ile342delinsPhe
NM_000143.3:c.1015_1024delinsT , LRG_504t1:c.1015_1024delinsT	NP_000134.2:p.Ala339_Ile342delinsPhe
XM_011544132.1:c.787_796delinsT	XP_011542434.1:p.Ala263_Ile266delinsPhe
XM_011544132.2:c.787_796delinsT	XP_011542434.1:p.Ala263_Ile266delinsPhe
NM_000143.4:c.1015_1024delinsT MANE Select	NP_000134.2:p.Ala339_Ile342delinsPhe