Canonical Allele Identifier: CA345441840

Gene: FH

Linked Data

• ClinVar Variation Id: 1061208
• ClinVar RCV Id: RCV001370748 ; RCV001762647 ; RCV002420831
• dbSNP Id: rs1472397242
• gnomAD v2: 1-241680546-T-C
• gnomAD v4: 1-241517246-T-C
• MyVariant Identifiers: chr1:g.241680546T>C (hg19) ; chr1:g.241517246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517246T>C , CM000663.2:g.241517246T>C	GRCh38
NC_000001.10:g.241680546T>C , CM000663.1:g.241680546T>C	GRCh37
NC_000001.9:g.239747169T>C	NCBI36
NG_012338.1:g.7509A>G , LRG_504:g.7509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.706A>G
ENST00000682162.1:c.232A>G	ENSP00000508203.1:n.232A>G
ENST00000682567.1:n.280A>G
ENST00000683521.1:c.203A>G	ENSP00000506864.1:p.Tyr68Cys
ENST00000684483.1:c.203A>G	ENSP00000507894.1:p.Tyr68Cys
ENST00000366560.4:c.203A>G MANE Select	ENSP00000355518.4:p.Tyr68Cys
ENST00000366560.3:c.203A>G	ENSP00000355518.3:p.Tyr68Cys
ENST00000493477.1:n.316A>G
NM_000143.3:c.203A>G , LRG_504t1:c.203A>G	NP_000134.2:p.Tyr68Cys
XM_011544132.1:c.-26A>G	XP_011542434.1:n.-26A>G
XM_011544132.2:c.-26A>G	XP_011542434.1:n.-26A>G
NM_000143.4:c.203A>G MANE Select	NP_000134.2:p.Tyr68Cys