Canonical Allele Identifier: CA345442696

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519619G>A , CM000663.2:g.241519619G>A	GRCh38
NC_000001.10:g.241682919G>A , CM000663.1:g.241682919G>A	GRCh37
NC_000001.9:g.239749542G>A	NCBI36
NG_012338.1:g.5136C>T , LRG_504:g.5136C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.104C>T MANE Select	NP_000134.2:p.Ser35Leu
ENST00000366560.4:c.104C>T MANE Select	ENSP00000355518.4:p.Ser35Leu
NM_000143.3:c.104C>T , LRG_504t1:c.104C>T	NP_000134.2:p.Ser35Leu
ENST00000366560.3:c.104C>T	ENSP00000355518.3:p.Ser35Leu
ENST00000493477.2:n.76C>T
ENST00000682162.1:c.104C>T	ENSP00000508203.1:p.Ser35Leu
ENST00000682567.1:n.181C>T
ENST00000683521.1:c.104C>T	ENSP00000506864.1:p.Ser35Leu
ENST00000684483.1:c.104C>T	ENSP00000507894.1:p.Ser35Leu
XM_011544132.2:c.-656C>T	XP_011542434.1:n.-656C>T