Canonical Allele Identifier: CA345438376

Gene: FH

Linked Data

• ClinVar Variation Id: 529812
• ClinVar RCV Id: RCV001784209
• dbSNP Id: rs1553341046
• MyVariant Identifiers: chr1:g.241667515A>C (hg19) ; chr1:g.241504215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504215A>C , CM000663.2:g.241504215A>C	GRCh38
NC_000001.10:g.241667515A>C , CM000663.1:g.241667515A>C	GRCh37
NC_000001.9:g.239734138A>C	NCBI36
NG_012338.1:g.20540T>G , LRG_504:g.20540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1438T>G
ENST00000682162.1:c.964T>G	ENSP00000508203.1:n.964T>G
ENST00000682567.1:n.1012T>G
ENST00000683521.1:c.935T>G	ENSP00000506864.1:p.Phe312Cys
ENST00000684161.1:n.2150T>G
ENST00000684483.1:c.*331T>G	ENSP00000507894.1:n.*331T>G
ENST00000366560.4:c.935T>G MANE Select	ENSP00000355518.4:p.Phe312Cys
ENST00000366560.3:c.935T>G	ENSP00000355518.3:p.Phe312Cys
NM_000143.3:c.935T>G , LRG_504t1:c.935T>G	NP_000134.2:p.Phe312Cys
XM_011544132.1:c.707T>G	XP_011542434.1:p.Phe236Cys
XM_011544132.2:c.707T>G	XP_011542434.1:p.Phe236Cys
NM_000143.4:c.935T>G MANE Select	NP_000134.2:p.Phe312Cys