Canonical Allele Identifier: CA1229580708

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508783_241508784delinsGC , CM000663.2:g.241508783_241508784delinsGC	GRCh38
NC_000001.10:g.241672083_241672084delinsGC , CM000663.1:g.241672083_241672084delinsGC	GRCh37
NC_000001.9:g.239738706_239738707delinsGC	NCBI36
NG_012338.1:g.15971_15972delinsGC , LRG_504:g.15971_15972delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1060_1061delinsGC
ENST00000682162.1:c.586_587delinsGC	ENSP00000508203.1:n.586_587delinsGC
ENST00000682567.1:n.634_635delinsGC
ENST00000683521.1:c.557_558delinsGC	ENSP00000506864.1:p.Ser186=
ENST00000684161.1:n.1772_1773delinsGC
ENST00000684483.1:c.556-24_556-23delinsGC	ENSP00000507894.1:n.556-24_556-23delinsGC
ENST00000366560.4:c.557_558delinsGC MANE Select	ENSP00000355518.4:p.Ser186=
ENST00000366560.3:c.557_558delinsGC	ENSP00000355518.3:p.Ser186=
NM_000143.3:c.557_558delinsGC , LRG_504t1:c.557_558delinsGC	NP_000134.2:p.Ser186=
XM_011544132.1:c.329_330delinsGC	XP_011542434.1:p.Ser110=
XM_011544132.2:c.329_330delinsGC	XP_011542434.1:p.Ser110=
NM_000143.4:c.557_558delinsGC MANE Select	NP_000134.2:p.Ser186=