Canonical Allele Identifier: CA345439182

Gene: FH

Linked Data

• ClinVar Variation Id: 1435759
• ClinVar RCV Id: RCV002562750 ; RCV004042926
• dbSNP Id: rs1291740270
• gnomAD v2: 1-241671923-C-G
• gnomAD v4: 1-241508623-C-G
• MyVariant Identifiers: chr1:g.241671923C>G (hg19) ; chr1:g.241508623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508623C>G , CM000663.2:g.241508623C>G	GRCh38
NC_000001.10:g.241671923C>G , CM000663.1:g.241671923C>G	GRCh37
NC_000001.9:g.239738546C>G	NCBI36
NG_012338.1:g.16132G>C , LRG_504:g.16132G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1221G>C
ENST00000682162.1:c.747G>C	ENSP00000508203.1:n.747G>C
ENST00000682567.1:n.795G>C
ENST00000683521.1:c.718G>C	ENSP00000506864.1:p.Val240Leu
ENST00000684161.1:n.1933G>C
ENST00000684483.1:c.*114G>C	ENSP00000507894.1:n.*114G>C
ENST00000366560.4:c.718G>C MANE Select	ENSP00000355518.4:p.Val240Leu
ENST00000366560.3:c.718G>C	ENSP00000355518.3:p.Val240Leu
NM_000143.3:c.718G>C , LRG_504t1:c.718G>C	NP_000134.2:p.Val240Leu
XM_011544132.1:c.490G>C	XP_011542434.1:p.Val164Leu
XM_011544132.2:c.490G>C	XP_011542434.1:p.Val164Leu
NM_000143.4:c.718G>C MANE Select	NP_000134.2:p.Val240Leu