Canonical Allele Identifier: CA2573132923

Gene: FH

Linked Data

• ClinVar Variation Id: 1391510
• ClinVar RCV Id: RCV003772695
• dbSNP Id: rs2147916070

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504081_241504082delinsGT , CM000663.2:g.241504081_241504082delinsGT	GRCh38
NC_000001.10:g.241667381_241667382delinsGT , CM000663.1:g.241667381_241667382delinsGT	GRCh37
NC_000001.9:g.239734004_239734005delinsGT	NCBI36
NG_012338.1:g.20673_20674delinsAC , LRG_504:g.20673_20674delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1571_1572delinsAC
ENST00000682162.1:c.1097_1098delinsAC	ENSP00000508203.1:n.1097_1098delinsAC
ENST00000682567.1:n.1145_1146delinsAC
ENST00000683521.1:c.1068_1069delinsAC	ENSP00000506864.1:p.Ile357Leu
ENST00000684161.1:n.2283_2284delinsAC
ENST00000684483.1:c.*464_*465delinsAC	ENSP00000507894.1:n.*464_*465delinsAC
ENST00000366560.4:c.1068_1069delinsAC MANE Select	ENSP00000355518.4:p.Ile357Leu
ENST00000366560.3:c.1068_1069delinsAC	ENSP00000355518.3:p.Ile357Leu
NM_000143.3:c.1068_1069delinsAC , LRG_504t1:c.1068_1069delinsAC	NP_000134.2:p.Ile357Leu
XM_011544132.1:c.840_841delinsAC	XP_011542434.1:p.Ile281Leu
XM_011544132.2:c.840_841delinsAC	XP_011542434.1:p.Ile281Leu
NM_000143.4:c.1068_1069delinsAC MANE Select	NP_000134.2:p.Ile357Leu