Canonical Allele Identifier: CA424075851

Gene: FH

Linked Data

• ClinVar Variation Id: 1538976
• ClinVar RCV Id: RCV002551310 ; RCV003289419
• dbSNP Id: rs2147916343
• MyVariant Identifiers: chr1:g.241667526A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504226A>C , CM000663.2:g.241504226A>C	GRCh38
NC_000001.10:g.241667526A>C , CM000663.1:g.241667526A>C	GRCh37
NC_000001.9:g.239734149A>C	NCBI36
NG_012338.1:g.20529T>G , LRG_504:g.20529T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1427T>G
ENST00000682162.1:c.953T>G	ENSP00000508203.1:n.953T>G
ENST00000682567.1:n.1001T>G
ENST00000683521.1:c.924T>G	ENSP00000506864.1:p.Ala308=
ENST00000684161.1:n.2139T>G
ENST00000684483.1:c.*320T>G	ENSP00000507894.1:n.*320T>G
ENST00000366560.4:c.924T>G MANE Select	ENSP00000355518.4:p.Ala308=
ENST00000366560.3:c.924T>G	ENSP00000355518.3:p.Ala308=
NM_000143.3:c.924T>G , LRG_504t1:c.924T>G	NP_000134.2:p.Ala308=
XM_011544132.1:c.696T>G	XP_011542434.1:p.Ala232=
XM_011544132.2:c.696T>G	XP_011542434.1:p.Ala232=
NM_000143.4:c.924T>G MANE Select	NP_000134.2:p.Ala308=