Canonical Allele Identifier: CA2697547775

Gene: FH

Linked Data

• ClinVar Variation Id: 2728346
• ClinVar RCV Id: RCV003559475

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508614dup , CM000663.2:g.241508614dup	GRCh38
NC_000001.10:g.241671914dup , CM000663.1:g.241671914dup	GRCh37
NC_000001.9:g.239738537dup	NCBI36
NG_012338.1:g.16141dup , LRG_504:g.16141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1230dup
ENST00000682162.1:c.756dup	ENSP00000508203.1:n.756dup
ENST00000682567.1:n.804dup
ENST00000683521.1:c.727dup	ENSP00000506864.1:p.Thr243AsnfsTer7
ENST00000684161.1:n.1942dup
ENST00000684483.1:c.*123dup	ENSP00000507894.1:n.*123dup
ENST00000366560.4:c.727dup MANE Select	ENSP00000355518.4:p.Thr243AsnfsTer7
ENST00000366560.3:c.727dup	ENSP00000355518.3:p.Thr243AsnfsTer7
NM_000143.3:c.727dup , LRG_504t1:c.727dup	NP_000134.2:p.Thr243AsnfsTer7
XM_011544132.1:c.499dup	XP_011542434.1:p.Thr167AsnfsTer7
XM_011544132.2:c.499dup	XP_011542434.1:p.Thr167AsnfsTer7
NM_000143.4:c.727dup MANE Select	NP_000134.2:p.Thr243AsnfsTer7