Canonical Allele Identifier: CA424075793

Gene: FH

Linked Data

• ClinVar Variation Id: 3230429
• ClinVar RCV Id: RCV004520580
• MyVariant Identifiers: chr1:g.241667433T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504133T>C , CM000663.2:g.241504133T>C	GRCh38
NC_000001.10:g.241667433T>C , CM000663.1:g.241667433T>C	GRCh37
NC_000001.9:g.239734056T>C	NCBI36
NG_012338.1:g.20622A>G , LRG_504:g.20622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1520A>G
ENST00000682162.1:c.1046A>G	ENSP00000508203.1:n.1046A>G
ENST00000682567.1:n.1094A>G
ENST00000683521.1:c.1017A>G	ENSP00000506864.1:p.Ala339=
ENST00000684161.1:n.2232A>G
ENST00000684483.1:c.*413A>G	ENSP00000507894.1:n.*413A>G
ENST00000366560.4:c.1017A>G MANE Select	ENSP00000355518.4:p.Ala339=
ENST00000366560.3:c.1017A>G	ENSP00000355518.3:p.Ala339=
NM_000143.3:c.1017A>G , LRG_504t1:c.1017A>G	NP_000134.2:p.Ala339=
XM_011544132.1:c.789A>G	XP_011542434.1:p.Ala263=
XM_011544132.2:c.789A>G	XP_011542434.1:p.Ala263=
NM_000143.4:c.1017A>G MANE Select	NP_000134.2:p.Ala339=