Canonical Allele Identifier: CA424076032

Gene: FH

Linked Data

• ClinVar Variation Id: 1399006
• ClinVar RCV Id: RCV002554302
• dbSNP Id: rs1659989732
• gnomAD v4: 1-241508630-C-T
• MyVariant Identifiers: chr1:g.241671930C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508630C>T , CM000663.2:g.241508630C>T	GRCh38
NC_000001.10:g.241671930C>T , CM000663.1:g.241671930C>T	GRCh37
NC_000001.9:g.239738553C>T	NCBI36
NG_012338.1:g.16125G>A , LRG_504:g.16125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1214G>A
ENST00000682162.1:c.740G>A	ENSP00000508203.1:n.740G>A
ENST00000682567.1:n.788G>A
ENST00000683521.1:c.711G>A	ENSP00000506864.1:p.Gln237=
ENST00000684161.1:n.1926G>A
ENST00000684483.1:c.*107G>A	ENSP00000507894.1:n.*107G>A
ENST00000366560.4:c.711G>A MANE Select	ENSP00000355518.4:p.Gln237=
ENST00000366560.3:c.711G>A	ENSP00000355518.3:p.Gln237=
NM_000143.3:c.711G>A , LRG_504t1:c.711G>A	NP_000134.2:p.Gln237=
XM_011544132.1:c.483G>A	XP_011542434.1:p.Gln161=
XM_011544132.2:c.483G>A	XP_011542434.1:p.Gln161=
NM_000143.4:c.711G>A MANE Select	NP_000134.2:p.Gln237=