Canonical Allele Identifier: CA2586968571

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517260dup , CM000663.2:g.241517260dup	GRCh38
NC_000001.10:g.241680560dup , CM000663.1:g.241680560dup	GRCh37
NC_000001.9:g.239747183dup	NCBI36
NG_012338.1:g.7497dup , LRG_504:g.7497dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.694dup
ENST00000682162.1:c.220dup	ENSP00000508203.1:n.220dup
ENST00000682567.1:n.268dup
ENST00000683521.1:c.191dup	ENSP00000506864.1:p.Asn64LysfsTer2
ENST00000684483.1:c.191dup	ENSP00000507894.1:p.Asn64LysfsTer2
ENST00000366560.4:c.191dup MANE Select	ENSP00000355518.4:p.Asn64LysfsTer2
ENST00000366560.3:c.191dup	ENSP00000355518.3:p.Asn64LysfsTer2
ENST00000493477.1:n.304dup
NM_000143.3:c.191dup , LRG_504t1:c.191dup	NP_000134.2:p.Asn64LysfsTer2
XM_011544132.1:c.-38dup	XP_011542434.1:n.-38dup
XM_011544132.2:c.-38dup	XP_011542434.1:n.-38dup
NM_000143.4:c.191dup MANE Select	NP_000134.2:p.Asn64LysfsTer2