Canonical Allele Identifier: CA16610058

Gene: FH

Linked Data

• ClinVar Variation Id: 405907
• ClinVar RCV Id: RCV001025432 ; RCV003470406 ; RCV002525538
• dbSNP Id: rs1060500893

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508682_241508683delinsAA , CM000663.2:g.241508682_241508683delinsAA	GRCh38
NC_000001.10:g.241671982_241671983delinsAA , CM000663.1:g.241671982_241671983delinsAA	GRCh37
NC_000001.9:g.239738605_239738606delinsAA	NCBI36
NG_012338.1:g.16072_16073delinsTT , LRG_504:g.16072_16073delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1161_1162delinsTT
ENST00000682162.1:c.687_688delinsTT	ENSP00000508203.1:n.687_688delinsTT
ENST00000682567.1:n.735_736delinsTT
ENST00000683521.1:c.658_659delinsTT	ENSP00000506864.1:p.Ala220Leu
ENST00000684161.1:n.1873_1874delinsTT
ENST00000684483.1:c.*54_*55delinsTT	ENSP00000507894.1:n.*54_*55delinsTT
ENST00000366560.4:c.658_659delinsTT MANE Select	ENSP00000355518.4:p.Ala220Leu
ENST00000366560.3:c.658_659delinsTT	ENSP00000355518.3:p.Ala220Leu
NM_000143.3:c.658_659delinsTT , LRG_504t1:c.658_659delinsTT	NP_000134.2:p.Ala220Leu
XM_011544132.1:c.430_431delinsTT	XP_011542434.1:p.Ala144Leu
XM_011544132.2:c.430_431delinsTT	XP_011542434.1:p.Ala144Leu
NM_000143.4:c.658_659delinsTT MANE Select	NP_000134.2:p.Ala220Leu