Canonical Allele Identifier: CA1139656723

Gene: FH

Linked Data

• ClinVar Variation Id: 971874
• ClinVar RCV Id: RCV002339690 ; RCV002564124
• dbSNP Id: rs1659853029

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504150dup , CM000663.2:g.241504150dup	GRCh38
NC_000001.10:g.241667450dup , CM000663.1:g.241667450dup	GRCh37
NC_000001.9:g.239734073dup	NCBI36
NG_012338.1:g.20605dup , LRG_504:g.20605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1503dup
ENST00000682162.1:c.1029dup	ENSP00000508203.1:n.1029dup
ENST00000682567.1:n.1077dup
ENST00000683521.1:c.1000dup	ENSP00000506864.1:p.Ser334LysfsTer8
ENST00000684161.1:n.2215dup
ENST00000684483.1:c.*396dup	ENSP00000507894.1:n.*396dup
ENST00000366560.4:c.1000dup MANE Select	ENSP00000355518.4:p.Ser334LysfsTer8
ENST00000366560.3:c.1000dup	ENSP00000355518.3:p.Ser334LysfsTer8
NM_000143.3:c.1000dup , LRG_504t1:c.1000dup	NP_000134.2:p.Ser334LysfsTer8
XM_011544132.1:c.772dup	XP_011542434.1:p.Ser258LysfsTer8
XM_011544132.2:c.772dup	XP_011542434.1:p.Ser258LysfsTer8
NM_000143.4:c.1000dup MANE Select	NP_000134.2:p.Ser334LysfsTer8