Canonical Allele Identifier: CA1478645

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508725C>T , CM000663.2:g.241508725C>T	GRCh38
NC_000001.10:g.241672025C>T , CM000663.1:g.241672025C>T	GRCh37
NC_000001.9:g.239738648C>T	NCBI36
NG_012338.1:g.16030G>A , LRG_504:g.16030G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.616G>A MANE Select	NP_000134.2:p.Val206Ile
ENST00000366560.4:c.616G>A MANE Select	ENSP00000355518.4:p.Val206Ile
NM_000143.3:c.616G>A , LRG_504t1:c.616G>A	NP_000134.2:p.Val206Ile
ENST00000366560.3:c.616G>A	ENSP00000355518.3:p.Val206Ile
ENST00000493477.2:n.1119G>A
ENST00000682162.1:c.645G>A	ENSP00000508203.1:n.645G>A
ENST00000682567.1:n.693G>A
ENST00000683521.1:c.616G>A	ENSP00000506864.1:p.Val206Ile
ENST00000684161.1:n.1831G>A
ENST00000684483.1:c.*12G>A	ENSP00000507894.1:n.*12G>A
XM_011544132.1:c.388G>A	XP_011542434.1:p.Val130Ile
XM_011544132.2:c.388G>A	XP_011542434.1:p.Val130Ile