Canonical Allele Identifier: CA345450412

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497878C>A , CM000663.2:g.241497878C>A	GRCh38
NC_000001.10:g.241661178C>A , CM000663.1:g.241661178C>A	GRCh37
NC_000001.9:g.239727801C>A	NCBI36
NG_012338.1:g.26877G>T , LRG_504:g.26877G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.1483G>T MANE Select	NP_000134.2:p.Glu495Ter
ENST00000366560.4:c.1483G>T MANE Select	ENSP00000355518.4:p.Glu495Ter
NM_000143.3:c.1483G>T , LRG_504t1:c.1483G>T	NP_000134.2:p.Glu495Ter
ENST00000366560.3:c.1483G>T	ENSP00000355518.3:p.Glu495Ter
ENST00000493477.2:n.1986G>T
ENST00000682162.1:c.1512G>T	ENSP00000508203.1:n.1512G>T
ENST00000682567.1:n.4883G>T
ENST00000684161.1:n.2698G>T
ENST00000684483.1:c.*879G>T	ENSP00000507894.1:n.*879G>T
XM_011544132.1:c.1255G>T	XP_011542434.1:p.Glu419Ter
XM_011544132.2:c.1255G>T	XP_011542434.1:p.Glu419Ter