Canonical Allele Identifier: CA1014011563

Gene: FH

Linked Data

• dbSNP Id: rs1659983064
• gnomAD v3: 1-241508409-C-CTTATAGCCAGTATACTCTGCTTTTCTTCTA
• gnomAD v4: 1-241508409-C-CTTATAGCCAGTATACTCTGCTTTTCTTCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508410_241508439dup , CM000663.2:g.241508410_241508439dup	GRCh38
NC_000001.10:g.241671710_241671739dup , CM000663.1:g.241671710_241671739dup	GRCh37
NC_000001.9:g.239738333_239738362dup	NCBI36
NG_012338.1:g.16316_16345dup , LRG_504:g.16316_16345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+164_1241+193dup
ENST00000682162.1:c.767+164_767+193dup	ENSP00000508203.1:n.767+164_767+193dup
ENST00000682567.1:n.815+164_815+193dup
ENST00000683521.1:c.738+164_738+193dup	ENSP00000506864.1:n.738+164_738+193dup
ENST00000684161.1:n.1953+164_1953+193dup
ENST00000684483.1:c.*134+164_*134+193dup	ENSP00000507894.1:n.*134+164_*134+193dup
ENST00000366560.4:c.738+164_738+193dup MANE Select	ENSP00000355518.4:n.738+164_738+193dup
ENST00000366560.3:c.738+164_738+193dup	ENSP00000355518.3:n.738+164_738+193dup
NM_000143.3:c.738+164_738+193dup , LRG_504t1:c.738+164_738+193dup	NP_000134.2:n.738+164_738+193dup
XM_011544132.1:c.510+164_510+193dup	XP_011542434.1:n.510+164_510+193dup
XM_011544132.2:c.510+164_510+193dup	XP_011542434.1:n.510+164_510+193dup
NM_000143.4:c.738+164_738+193dup MANE Select	NP_000134.2:n.738+164_738+193dup