Canonical Allele Identifier: CA424075667

Gene: FH

Linked Data

• ClinVar Variation Id: 1646536
• ClinVar RCV Id: RCV003070648
• dbSNP Id: rs1659805814
• MyVariant Identifiers: chr1:g.241665785G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502485G>T , CM000663.2:g.241502485G>T	GRCh38
NC_000001.10:g.241665785G>T , CM000663.1:g.241665785G>T	GRCh37
NC_000001.9:g.239732408G>T	NCBI36
NG_012338.1:g.22270C>A , LRG_504:g.22270C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1697C>A
ENST00000682162.1:c.1223C>A	ENSP00000508203.1:n.1223C>A
ENST00000682567.1:n.2742C>A
ENST00000683521.1:c.1194C>A	ENSP00000506864.1:p.Gly398=
ENST00000684161.1:n.2409C>A
ENST00000684483.1:c.*590C>A	ENSP00000507894.1:n.*590C>A
ENST00000366560.4:c.1194C>A MANE Select	ENSP00000355518.4:p.Gly398=
ENST00000366560.3:c.1194C>A	ENSP00000355518.3:p.Gly398=
NM_000143.3:c.1194C>A , LRG_504t1:c.1194C>A	NP_000134.2:p.Gly398=
XM_011544132.1:c.966C>A	XP_011542434.1:p.Gly322=
XM_011544132.2:c.966C>A	XP_011542434.1:p.Gly322=
NM_000143.4:c.1194C>A MANE Select	NP_000134.2:p.Gly398=