Canonical Allele Identifier: CA215563

Gene: FH

Linked Data

• ClinVar Variation Id: 41584
• ClinVar RCV Id: RCV000034486 ; RCV000471678 ; RCV000568576
• dbSNP Id: rs201502246
• gnomAD v2: 1-241667542-A-G
• gnomAD v3: 1-241504242-A-G
• gnomAD v4: 1-241504242-A-G
• MyVariant Identifiers: chr1:g.241667542A>G (hg19) ; chr1:g.241504242A>G (hg38)
• PubMed: PMID:22595425 ; PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504242A>G , CM000663.2:g.241504242A>G	GRCh38
NC_000001.10:g.241667542A>G , CM000663.1:g.241667542A>G	GRCh37
NC_000001.9:g.239734165A>G	NCBI36
NG_012338.1:g.20513T>C , LRG_504:g.20513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1411T>C
ENST00000682162.1:c.937T>C	ENSP00000508203.1:n.937T>C
ENST00000682567.1:n.985T>C
ENST00000683521.1:c.908T>C	ENSP00000506864.1:p.Leu303Ser
ENST00000684161.1:n.2123T>C
ENST00000684483.1:c.*304T>C	ENSP00000507894.1:n.*304T>C
ENST00000366560.4:c.908T>C MANE Select	ENSP00000355518.4:p.Leu303Ser
ENST00000366560.3:c.908T>C	ENSP00000355518.3:p.Leu303Ser
NM_000143.3:c.908T>C , LRG_504t1:c.908T>C	NP_000134.2:p.Leu303Ser
XM_011544132.1:c.680T>C	XP_011542434.1:p.Leu227Ser
XM_011544132.2:c.680T>C	XP_011542434.1:p.Leu227Ser
NM_000143.4:c.908T>C MANE Select	NP_000134.2:p.Leu303Ser