Canonical Allele Identifier: CA40335952

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517255T>A , CM000663.2:g.241517255T>A	GRCh38
NC_000001.10:g.241680555T>A , CM000663.1:g.241680555T>A	GRCh37
NC_000001.9:g.239747178T>A	NCBI36
NG_012338.1:g.7500A>T , LRG_504:g.7500A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.194A>T MANE Select	NP_000134.2:p.Asp65Val
ENST00000366560.4:c.194A>T MANE Select	ENSP00000355518.4:p.Asp65Val
NM_000143.3:c.194A>T , LRG_504t1:c.194A>T	NP_000134.2:p.Asp65Val
ENST00000366560.3:c.194A>T	ENSP00000355518.3:p.Asp65Val
ENST00000493477.1:n.307A>T
ENST00000493477.2:n.697A>T
ENST00000682162.1:c.223A>T	ENSP00000508203.1:n.223A>T
ENST00000682567.1:n.271A>T
ENST00000683521.1:c.194A>T	ENSP00000506864.1:p.Asp65Val
ENST00000684483.1:c.194A>T	ENSP00000507894.1:p.Asp65Val
XM_011544132.1:c.-35A>T	XP_011542434.1:n.-35A>T
XM_011544132.2:c.-35A>T	XP_011542434.1:n.-35A>T