Canonical Allele Identifier: CA2499214635

Gene: FH

Linked Data

• ClinVar Variation Id: 1070254
• ClinVar RCV Id: RCV002550968
• dbSNP Id: rs2147919380

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508605_241508606delinsAA , CM000663.2:g.241508605_241508606delinsAA	GRCh38
NC_000001.10:g.241671905_241671906delinsAA , CM000663.1:g.241671905_241671906delinsAA	GRCh37
NC_000001.9:g.239738528_239738529delinsAA	NCBI36
NG_012338.1:g.16149_16150delinsTT , LRG_504:g.16149_16150delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1238_1239delinsTT
ENST00000682162.1:c.764_765delinsTT	ENSP00000508203.1:n.764_765delinsTT
ENST00000682567.1:n.812_813delinsTT
ENST00000683521.1:c.735_736delinsTT	ENSP00000506864.1:p.Gly246Ter
ENST00000684161.1:n.1950_1951delinsTT
ENST00000684483.1:c.*131_*132delinsTT	ENSP00000507894.1:n.*131_*132delinsTT
ENST00000366560.4:c.735_736delinsTT MANE Select	ENSP00000355518.4:p.Gly246Ter
ENST00000366560.3:c.735_736delinsTT	ENSP00000355518.3:p.Gly246Ter
NM_000143.3:c.735_736delinsTT , LRG_504t1:c.735_736delinsTT	NP_000134.2:p.Gly246Ter
XM_011544132.1:c.507_508delinsTT	XP_011542434.1:p.Gly170Ter
XM_011544132.2:c.507_508delinsTT	XP_011542434.1:p.Gly170Ter
NM_000143.4:c.735_736delinsTT MANE Select	NP_000134.2:p.Gly246Ter