Canonical Allele Identifier: CA658656998

Gene: FH

Linked Data

• ClinVar Variation Id: 460337
• ClinVar RCV Id: RCV002527718
• dbSNP Id: rs1553340708
• MyVariant Identifiers: chr1:g.241663876dup (hg19) ; chr1:g.241500576dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500576dup , CM000663.2:g.241500576dup	GRCh38
NC_000001.10:g.241663876dup , CM000663.1:g.241663876dup	GRCh37
NC_000001.9:g.239730499dup	NCBI36
NG_012338.1:g.24179dup , LRG_504:g.24179dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1754dup
ENST00000682162.1:c.1280dup	ENSP00000508203.1:n.1280dup
ENST00000682567.1:n.4651dup
ENST00000683521.1:c.1251dup	ENSP00000506864.1:p.His418ThrfsTer?
ENST00000684161.1:n.2466dup
ENST00000684483.1:c.*647dup	ENSP00000507894.1:n.*647dup
ENST00000366560.4:c.1251dup MANE Select	ENSP00000355518.4:p.His418ThrfsTer?
ENST00000366560.3:c.1251dup	ENSP00000355518.3:p.His418ThrfsTer?
NM_000143.3:c.1251dup , LRG_504t1:c.1251dup	NP_000134.2:p.His418ThrfsTer?
XM_011544132.1:c.1023dup	XP_011542434.1:p.His342ThrfsTer?
XM_011544132.2:c.1023dup	XP_011542434.1:p.His342ThrfsTer?
NM_000143.4:c.1251dup MANE Select	NP_000134.2:p.His418ThrfsTer?