Canonical Allele Identifier: CA345438912

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506065G>A , CM000663.2:g.241506065G>A	GRCh38
NC_000001.10:g.241669365G>A , CM000663.1:g.241669365G>A	GRCh37
NC_000001.9:g.239735988G>A	NCBI36
NG_012338.1:g.18690C>T , LRG_504:g.18690C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.842C>T MANE Select	NP_000134.2:p.Thr281Ile
ENST00000366560.4:c.842C>T MANE Select	ENSP00000355518.4:p.Thr281Ile
NM_000143.3:c.842C>T , LRG_504t1:c.842C>T	NP_000134.2:p.Thr281Ile
ENST00000366560.3:c.842C>T	ENSP00000355518.3:p.Thr281Ile
ENST00000493477.2:n.1345C>T
ENST00000682162.1:c.871C>T	ENSP00000508203.1:n.871C>T
ENST00000682567.1:n.919C>T
ENST00000683521.1:c.842C>T	ENSP00000506864.1:p.Thr281Ile
ENST00000684161.1:n.2057C>T
ENST00000684483.1:c.*238C>T	ENSP00000507894.1:n.*238C>T
XM_011544132.1:c.614C>T	XP_011542434.1:p.Thr205Ile
XM_011544132.2:c.614C>T	XP_011542434.1:p.Thr205Ile