Canonical Allele Identifier: CA658822664

Gene: FH

Linked Data

• ClinVar Variation Id: 545767
• ClinVar RCV Id: RCV000657292
• dbSNP Id: rs1553341610
• MyVariant Identifiers: chr1:g.241675379dup (hg19) ; chr1:g.241512079dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512079dup , CM000663.2:g.241512079dup	GRCh38
NC_000001.10:g.241675379dup , CM000663.1:g.241675379dup	GRCh37
NC_000001.9:g.239742002dup	NCBI36
NG_012338.1:g.12676dup , LRG_504:g.12676dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.946dup
ENST00000682162.1:c.472dup	ENSP00000508203.1:n.472dup
ENST00000682567.1:n.520dup
ENST00000683521.1:c.443dup	ENSP00000506864.1:p.Thr149AspfsTer7
ENST00000684483.1:c.443dup	ENSP00000507894.1:p.Thr149AspfsTer7
ENST00000366560.4:c.443dup MANE Select	ENSP00000355518.4:p.Thr149AspfsTer7
ENST00000366560.3:c.443dup	ENSP00000355518.3:p.Thr149AspfsTer7
ENST00000497042.1:n.139dup
NM_000143.3:c.443dup , LRG_504t1:c.443dup	NP_000134.2:p.Thr149AspfsTer7
XM_011544132.1:c.215dup	XP_011542434.1:p.Thr73AspfsTer7
XM_011544132.2:c.215dup	XP_011542434.1:p.Thr73AspfsTer7
NM_000143.4:c.443dup MANE Select	NP_000134.2:p.Thr149AspfsTer7