Canonical Allele Identifier: CA1229582045

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512036A= , CM000663.2:g.241512036A=	GRCh38
NC_000001.10:g.241675336A= , CM000663.1:g.241675336A=	GRCh37
NC_000001.9:g.239741959A=	NCBI36
NG_012338.1:g.12719T= , LRG_504:g.12719T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.989T=
ENST00000682162.1:c.515T=	ENSP00000508203.1:n.515T=
ENST00000682567.1:n.563T=
ENST00000683521.1:c.486T=	ENSP00000506864.1:p.Ile162=
ENST00000684483.1:c.486T=	ENSP00000507894.1:p.Ile162=
ENST00000366560.4:c.486T= MANE Select	ENSP00000355518.4:p.Ile162=
ENST00000366560.3:c.486T=	ENSP00000355518.3:p.Ile162=
ENST00000497042.1:n.182T=
NM_000143.3:c.486T= , LRG_504t1:c.486T=	NP_000134.2:p.Ile162=
XM_011544132.1:c.258T=	XP_011542434.1:p.Ile86=
XM_011544132.2:c.258T=	XP_011542434.1:p.Ile86=
NM_000143.4:c.486T= MANE Select	NP_000134.2:p.Ile162=