Canonical Allele Identifier: CA2586968575

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504200_241504201delinsAA , CM000663.2:g.241504200_241504201delinsAA	GRCh38
NC_000001.10:g.241667500_241667501delinsAA , CM000663.1:g.241667500_241667501delinsAA	GRCh37
NC_000001.9:g.239734123_239734124delinsAA	NCBI36
NG_012338.1:g.20554_20555delinsTT , LRG_504:g.20554_20555delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1452_1453delinsTT
ENST00000682162.1:c.978_979delinsTT	ENSP00000508203.1:n.978_979delinsTT
ENST00000682567.1:n.1026_1027delinsTT
ENST00000683521.1:c.949_950delinsTT	ENSP00000506864.1:p.Ala317Phe
ENST00000684161.1:n.2164_2165delinsTT
ENST00000684483.1:c.*345_*346delinsTT	ENSP00000507894.1:n.*345_*346delinsTT
ENST00000366560.4:c.949_950delinsTT MANE Select	ENSP00000355518.4:p.Ala317Phe
ENST00000366560.3:c.949_950delinsTT	ENSP00000355518.3:p.Ala317Phe
NM_000143.3:c.949_950delinsTT , LRG_504t1:c.949_950delinsTT	NP_000134.2:p.Ala317Phe
XM_011544132.1:c.721_722delinsTT	XP_011542434.1:p.Ala241Phe
XM_011544132.2:c.721_722delinsTT	XP_011542434.1:p.Ala241Phe
NM_000143.4:c.949_950delinsTT MANE Select	NP_000134.2:p.Ala317Phe