Canonical Allele Identifier: CA345442654

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519607G>A , CM000663.2:g.241519607G>A	GRCh38
NC_000001.10:g.241682907G>A , CM000663.1:g.241682907G>A	GRCh37
NC_000001.9:g.239749530G>A	NCBI36
NG_012338.1:g.5148C>T , LRG_504:g.5148C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.116C>T MANE Select	NP_000134.2:p.Pro39Leu
ENST00000366560.4:c.116C>T MANE Select	ENSP00000355518.4:p.Pro39Leu
NM_000143.3:c.116C>T , LRG_504t1:c.116C>T	NP_000134.2:p.Pro39Leu
ENST00000366560.3:c.116C>T	ENSP00000355518.3:p.Pro39Leu
ENST00000493477.2:n.88C>T
ENST00000682162.1:c.116C>T	ENSP00000508203.1:p.Pro39Leu
ENST00000682567.1:n.193C>T
ENST00000683521.1:c.116C>T	ENSP00000506864.1:p.Pro39Leu
ENST00000684483.1:c.116C>T	ENSP00000507894.1:p.Pro39Leu
XM_011544132.2:c.-644C>T	XP_011542434.1:n.-644C>T