Canonical Allele Identifier: CA424076015

Gene: FH

Linked Data

• ClinVar Variation Id: 1672699
• ClinVar RCV Id: RCV003089086
• dbSNP Id: rs1277279137
• gnomAD v2: 1-241671909-A-G
• gnomAD v4: 1-241508609-A-G
• MyVariant Identifiers: chr1:g.241671909A>G (hg19) ; chr1:g.241508609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508609A>G , CM000663.2:g.241508609A>G	GRCh38
NC_000001.10:g.241671909A>G , CM000663.1:g.241671909A>G	GRCh37
NC_000001.9:g.239738532A>G	NCBI36
NG_012338.1:g.16146T>C , LRG_504:g.16146T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1235T>C
ENST00000682162.1:c.761T>C	ENSP00000508203.1:n.761T>C
ENST00000682567.1:n.809T>C
ENST00000683521.1:c.732T>C	ENSP00000506864.1:p.Leu244=
ENST00000684161.1:n.1947T>C
ENST00000684483.1:c.*128T>C	ENSP00000507894.1:n.*128T>C
ENST00000366560.4:c.732T>C MANE Select	ENSP00000355518.4:p.Leu244=
ENST00000366560.3:c.732T>C	ENSP00000355518.3:p.Leu244=
NM_000143.3:c.732T>C , LRG_504t1:c.732T>C	NP_000134.2:p.Leu244=
XM_011544132.1:c.504T>C	XP_011542434.1:p.Leu168=
XM_011544132.2:c.504T>C	XP_011542434.1:p.Leu168=
NM_000143.4:c.732T>C MANE Select	NP_000134.2:p.Leu244=