Canonical Allele Identifier: CA1478439

Gene: FH

Linked Data

• ClinVar Variation Id: 405918
• ClinVar RCV Id: RCV000462215 ; RCV002393092 ; RCV003103776
• dbSNP Id: rs201886827
• ExAC: 1:241661228 T / C
• gnomAD v2: 1-241661228-T-C
• gnomAD v3: 1-241497928-T-C
• gnomAD v4: 1-241497928-T-C
• MyVariant Identifiers: chr1:g.241661228T>C (hg19) ; chr1:g.241497928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497928T>C , CM000663.2:g.241497928T>C	GRCh38
NC_000001.10:g.241661228T>C , CM000663.1:g.241661228T>C	GRCh37
NC_000001.9:g.239727851T>C	NCBI36
NG_012338.1:g.26827A>G , LRG_504:g.26827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1936A>G
ENST00000682162.1:c.1462A>G	ENSP00000508203.1:n.1462A>G
ENST00000682567.1:n.4833A>G
ENST00000684161.1:n.2648A>G
ENST00000684483.1:c.*829A>G	ENSP00000507894.1:n.*829A>G
ENST00000366560.4:c.1433A>G MANE Select	ENSP00000355518.4:p.Asn478Ser
ENST00000366560.3:c.1433A>G	ENSP00000355518.3:p.Asn478Ser
NM_000143.3:c.1433A>G , LRG_504t1:c.1433A>G	NP_000134.2:p.Asn478Ser
XM_011544132.1:c.1205A>G	XP_011542434.1:p.Asn402Ser
XM_011544132.2:c.1205A>G	XP_011542434.1:p.Asn402Ser
NM_000143.4:c.1433A>G MANE Select	NP_000134.2:p.Asn478Ser