Canonical Allele Identifier: CA1478630

Gene: FH

Linked Data

• ClinVar Variation Id: 429176
• ClinVar RCV Id: RCV000494410 ; RCV001782983 ; RCV003464063
• dbSNP Id: rs752232718
• ExAC: 1:241671952 T / C
• gnomAD v2: 1-241671952-T-C
• gnomAD v4: 1-241508652-T-C
• MyVariant Identifiers: chr1:g.241671952T>C (hg19) ; chr1:g.241508652T>C (hg38)
• PubMed: PMID:9635293 ; PMID:11865300 ; PMID:21445611 ; PMID:22561013

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508652T>C , CM000663.2:g.241508652T>C	GRCh38
NC_000001.10:g.241671952T>C , CM000663.1:g.241671952T>C	GRCh37
NC_000001.9:g.239738575T>C	NCBI36
NG_012338.1:g.16103A>G , LRG_504:g.16103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1192A>G
ENST00000682162.1:c.718A>G	ENSP00000508203.1:n.718A>G
ENST00000682567.1:n.766A>G
ENST00000683521.1:c.689A>G	ENSP00000506864.1:p.Lys230Arg
ENST00000684161.1:n.1904A>G
ENST00000684483.1:c.*85A>G	ENSP00000507894.1:n.*85A>G
ENST00000366560.4:c.689A>G MANE Select	ENSP00000355518.4:p.Lys230Arg
ENST00000366560.3:c.689A>G	ENSP00000355518.3:p.Lys230Arg
NM_000143.3:c.689A>G , LRG_504t1:c.689A>G	NP_000134.2:p.Lys230Arg
XM_011544132.1:c.461A>G	XP_011542434.1:p.Lys154Arg
XM_011544132.2:c.461A>G	XP_011542434.1:p.Lys154Arg
NM_000143.4:c.689A>G MANE Select	NP_000134.2:p.Lys230Arg