Canonical Allele Identifier: CA16609365

Gene: FH

Linked Data

• ClinVar Variation Id: 393575
• ClinVar RCV Id: RCV000445616 ; RCV002525530 ; RCV004555576
• dbSNP Id: rs1060499640
• gnomAD v4: 1-241504128-T-C
• MyVariant Identifiers: chr1:g.241667428T>C (hg19) ; chr1:g.241504128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504128T>C , CM000663.2:g.241504128T>C	GRCh38
NC_000001.10:g.241667428T>C , CM000663.1:g.241667428T>C	GRCh37
NC_000001.9:g.239734051T>C	NCBI36
NG_012338.1:g.20627A>G , LRG_504:g.20627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1525A>G
ENST00000682162.1:c.1051A>G	ENSP00000508203.1:n.1051A>G
ENST00000682567.1:n.1099A>G
ENST00000683521.1:c.1022A>G	ENSP00000506864.1:p.Asp341Gly
ENST00000684161.1:n.2237A>G
ENST00000684483.1:c.*418A>G	ENSP00000507894.1:n.*418A>G
ENST00000366560.4:c.1022A>G MANE Select	ENSP00000355518.4:p.Asp341Gly
ENST00000366560.3:c.1022A>G	ENSP00000355518.3:p.Asp341Gly
NM_000143.3:c.1022A>G , LRG_504t1:c.1022A>G	NP_000134.2:p.Asp341Gly
XM_011544132.1:c.794A>G	XP_011542434.1:p.Asp265Gly
XM_011544132.2:c.794A>G	XP_011542434.1:p.Asp265Gly
NM_000143.4:c.1022A>G MANE Select	NP_000134.2:p.Asp341Gly