Canonical Allele Identifier: CA40371759

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497946G>A , CM000663.2:g.241497946G>A	GRCh38
NC_000001.10:g.241661246G>A , CM000663.1:g.241661246G>A	GRCh37
NC_000001.9:g.239727869G>A	NCBI36
NG_012338.1:g.26809C>T , LRG_504:g.26809C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.1415C>T MANE Select	NP_000134.2:p.Ala472Val
ENST00000366560.4:c.1415C>T MANE Select	ENSP00000355518.4:p.Ala472Val
NM_000143.3:c.1415C>T , LRG_504t1:c.1415C>T	NP_000134.2:p.Ala472Val
ENST00000366560.3:c.1415C>T	ENSP00000355518.3:p.Ala472Val
ENST00000493477.2:n.1918C>T
ENST00000682162.1:c.1444C>T	ENSP00000508203.1:n.1444C>T
ENST00000682567.1:n.4815C>T
ENST00000684161.1:n.2630C>T
ENST00000684483.1:c.*811C>T	ENSP00000507894.1:n.*811C>T
XM_011544132.1:c.1187C>T	XP_011542434.1:p.Ala396Val
XM_011544132.2:c.1187C>T	XP_011542434.1:p.Ala396Val