Canonical Allele Identifier: CA322151

Gene: FH

Linked Data

• ClinVar Variation Id: 214434
• ClinVar RCV Id: RCV000197689 ; RCV000494113 ; RCV002288799
• dbSNP Id: rs863224016
• MyVariant Identifiers: chr1:g.241667394dupA (hg19) ; chr1:g.241667393_241667394insA (hg19) ; chr1:g.241504094dupA (hg38) ; chr1:g.241504093_241504094insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504094dup , CM000663.2:g.241504094dup	GRCh38
NC_000001.10:g.241667394dup , CM000663.1:g.241667394dup	GRCh37
NC_000001.9:g.239734017dup	NCBI36
NG_012338.1:g.20661dup , LRG_504:g.20661dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1559dup
ENST00000682162.1:c.1085dup	ENSP00000508203.1:n.1085dup
ENST00000682567.1:n.1133dup
ENST00000683521.1:c.1056dup	ENSP00000506864.1:p.Leu353SerfsTer8
ENST00000684161.1:n.2271dup
ENST00000684483.1:c.*452dup	ENSP00000507894.1:n.*452dup
ENST00000366560.4:c.1056dup MANE Select	ENSP00000355518.4:p.Leu353SerfsTer8
ENST00000366560.3:c.1056dup	ENSP00000355518.3:p.Leu353SerfsTer8
NM_000143.3:c.1056dup , LRG_504t1:c.1056dup	NP_000134.2:p.Leu353SerfsTer8
XM_011544132.1:c.828dup	XP_011542434.1:p.Leu277SerfsTer8
XM_011544132.2:c.828dup	XP_011542434.1:p.Leu277SerfsTer8
NM_000143.4:c.1056dup MANE Select	NP_000134.2:p.Leu353SerfsTer8