Canonical Allele Identifier: CA345438363

Gene: FH

Linked Data

• ClinVar Variation Id: 1045525
• ClinVar RCV Id: RCV002545624
• dbSNP Id: rs1659856002
• MyVariant Identifiers: chr1:g.241667509G>C (hg19) ; chr1:g.241504209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504209G>C , CM000663.2:g.241504209G>C	GRCh38
NC_000001.10:g.241667509G>C , CM000663.1:g.241667509G>C	GRCh37
NC_000001.9:g.239734132G>C	NCBI36
NG_012338.1:g.20546C>G , LRG_504:g.20546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1444C>G
ENST00000682162.1:c.970C>G	ENSP00000508203.1:n.970C>G
ENST00000682567.1:n.1018C>G
ENST00000683521.1:c.941C>G	ENSP00000506864.1:p.Ala314Gly
ENST00000684161.1:n.2156C>G
ENST00000684483.1:c.*337C>G	ENSP00000507894.1:n.*337C>G
ENST00000366560.4:c.941C>G MANE Select	ENSP00000355518.4:p.Ala314Gly
ENST00000366560.3:c.941C>G	ENSP00000355518.3:p.Ala314Gly
NM_000143.3:c.941C>G , LRG_504t1:c.941C>G	NP_000134.2:p.Ala314Gly
XM_011544132.1:c.713C>G	XP_011542434.1:p.Ala238Gly
XM_011544132.2:c.713C>G	XP_011542434.1:p.Ala238Gly
NM_000143.4:c.941C>G MANE Select	NP_000134.2:p.Ala314Gly