Canonical Allele Identifier: CA159746

Gene: FH

Linked Data

• ClinVar Variation Id: 134417
• ClinVar RCV Id: RCV000121093 ; RCV000554866 ; RCV000567053 ; RCV002514641
• dbSNP Id: rs587778362
• ExAC: 1:241665841 T / C
• gnomAD v2: 1-241665841-T-C
• gnomAD v3: 1-241502541-T-C
• gnomAD v4: 1-241502541-T-C
• MyVariant Identifiers: chr1:g.241665841T>C (hg19) ; chr1:g.241502541T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502541T>C , CM000663.2:g.241502541T>C	GRCh38
NC_000001.10:g.241665841T>C , CM000663.1:g.241665841T>C	GRCh37
NC_000001.9:g.239732464T>C	NCBI36
NG_012338.1:g.22214A>G , LRG_504:g.22214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1641A>G
ENST00000682162.1:c.1167A>G	ENSP00000508203.1:n.1167A>G
ENST00000682567.1:n.2686A>G
ENST00000683521.1:c.1138A>G	ENSP00000506864.1:p.Met380Val
ENST00000684161.1:n.2353A>G
ENST00000684483.1:c.*534A>G	ENSP00000507894.1:n.*534A>G
ENST00000366560.4:c.1138A>G MANE Select	ENSP00000355518.4:p.Met380Val
ENST00000366560.3:c.1138A>G	ENSP00000355518.3:p.Met380Val
NM_000143.3:c.1138A>G , LRG_504t1:c.1138A>G	NP_000134.2:p.Met380Val
XM_011544132.1:c.910A>G	XP_011542434.1:p.Met304Val
XM_011544132.2:c.910A>G	XP_011542434.1:p.Met304Val
NM_000143.4:c.1138A>G MANE Select	NP_000134.2:p.Met380Val