Canonical Allele Identifier: CA40327916

Gene: FH

Linked Data

• ClinVar Variation Id: 1766540
• ClinVar RCV Id: RCV002371581
• dbSNP Id: rs549087719
• gnomAD v4: 1-241504220-A-G
• MyVariant Identifiers: chr1:g.241667520A>G (hg19) ; chr1:g.241504220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504220A>G , CM000663.2:g.241504220A>G	GRCh38
NC_000001.10:g.241667520A>G , CM000663.1:g.241667520A>G	GRCh37
NC_000001.9:g.239734143A>G	NCBI36
NG_012338.1:g.20535T>C , LRG_504:g.20535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1433T>C
ENST00000682162.1:c.959T>C	ENSP00000508203.1:n.959T>C
ENST00000682567.1:n.1007T>C
ENST00000683521.1:c.930T>C	ENSP00000506864.1:p.Asn310=
ENST00000684161.1:n.2145T>C
ENST00000684483.1:c.*326T>C	ENSP00000507894.1:n.*326T>C
ENST00000366560.4:c.930T>C MANE Select	ENSP00000355518.4:p.Asn310=
ENST00000366560.3:c.930T>C	ENSP00000355518.3:p.Asn310=
NM_000143.3:c.930T>C , LRG_504t1:c.930T>C	NP_000134.2:p.Asn310=
XM_011544132.1:c.702T>C	XP_011542434.1:p.Asn234=
XM_011544132.2:c.702T>C	XP_011542434.1:p.Asn234=
NM_000143.4:c.930T>C MANE Select	NP_000134.2:p.Asn310=