Canonical Allele Identifier: CA16609374

Gene: FH

Linked Data

• ClinVar Variation Id: 393563
• ClinVar RCV Id: RCV000445601 ; RCV000657166
• dbSNP Id: rs1060499633
• gnomAD v2: 1-241675382-G-GT
• gnomAD v4: 1-241512082-G-GT
• MyVariant Identifiers: chr1:g.241675383dupT (hg19) ; chr1:g.241675382_241675383insT (hg19) ; chr1:g.241512083dupT (hg38) ; chr1:g.241512082_241512083insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512084dup , CM000663.2:g.241512084dup	GRCh38
NC_000001.10:g.241675384dup , CM000663.1:g.241675384dup	GRCh37
NC_000001.9:g.239742007dup	NCBI36
NG_012338.1:g.12672dup , LRG_504:g.12672dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.942dup
ENST00000682162.1:c.468dup	ENSP00000508203.1:n.468dup
ENST00000682567.1:n.516dup
ENST00000683521.1:c.439dup	ENSP00000506864.1:p.Thr147AsnfsTer9
ENST00000684483.1:c.439dup	ENSP00000507894.1:p.Thr147AsnfsTer9
ENST00000366560.4:c.439dup MANE Select	ENSP00000355518.4:p.Thr147AsnfsTer9
ENST00000366560.3:c.439dup	ENSP00000355518.3:p.Thr147AsnfsTer9
ENST00000497042.1:n.135dup
NM_000143.3:c.439dup , LRG_504t1:c.439dup	NP_000134.2:p.Thr147AsnfsTer9
XM_011544132.1:c.211dup	XP_011542434.1:p.Thr71AsnfsTer9
XM_011544132.2:c.211dup	XP_011542434.1:p.Thr71AsnfsTer9
NM_000143.4:c.439dup MANE Select	NP_000134.2:p.Thr147AsnfsTer9