Canonical Allele Identifier: CA1478562

Gene: FH

Linked Data

• ClinVar Variation Id: 405919
• ClinVar RCV Id: RCV000457338 ; RCV000574405 ; RCV001591073 ; RCV004555577
• dbSNP Id: rs768483509
• ExAC: 1:241667464 T / C
• gnomAD v2: 1-241667464-T-C
• gnomAD v3: 1-241504164-T-C
• gnomAD v4: 1-241504164-T-C
• MyVariant Identifiers: chr1:g.241667464T>C (hg19) ; chr1:g.241504164T>C (hg38)
• PubMed: PMID:24334767

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504164T>C , CM000663.2:g.241504164T>C	GRCh38
NC_000001.10:g.241667464T>C , CM000663.1:g.241667464T>C	GRCh37
NC_000001.9:g.239734087T>C	NCBI36
NG_012338.1:g.20591A>G , LRG_504:g.20591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1489A>G
ENST00000682162.1:c.1015A>G	ENSP00000508203.1:n.1015A>G
ENST00000682567.1:n.1063A>G
ENST00000683521.1:c.986A>G	ENSP00000506864.1:p.Asn329Ser
ENST00000684161.1:n.2201A>G
ENST00000684483.1:c.*382A>G	ENSP00000507894.1:n.*382A>G
ENST00000366560.4:c.986A>G MANE Select	ENSP00000355518.4:p.Asn329Ser
ENST00000366560.3:c.986A>G	ENSP00000355518.3:p.Asn329Ser
NM_000143.3:c.986A>G , LRG_504t1:c.986A>G	NP_000134.2:p.Asn329Ser
XM_011544132.1:c.758A>G	XP_011542434.1:p.Asn253Ser
XM_011544132.2:c.758A>G	XP_011542434.1:p.Asn253Ser
NM_000143.4:c.986A>G MANE Select	NP_000134.2:p.Asn329Ser