Canonical Allele Identifier: CA345441926

Gene: FH

Linked Data

• ClinVar Variation Id: 1779932
• ClinVar RCV Id: RCV002404041
• MyVariant Identifiers: chr1:g.241680572T>G (hg19) ; chr1:g.241517272T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517272T>G , CM000663.2:g.241517272T>G	GRCh38
NC_000001.10:g.241680572T>G , CM000663.1:g.241680572T>G	GRCh37
NC_000001.9:g.239747195T>G	NCBI36
NG_012338.1:g.7483A>C , LRG_504:g.7483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.680A>C
ENST00000682162.1:c.206A>C	ENSP00000508203.1:n.206A>C
ENST00000682567.1:n.254A>C
ENST00000683521.1:c.177A>C	ENSP00000506864.1:p.Glu59Asp
ENST00000684483.1:c.177A>C	ENSP00000507894.1:p.Glu59Asp
ENST00000366560.4:c.177A>C MANE Select	ENSP00000355518.4:p.Glu59Asp
ENST00000366560.3:c.177A>C	ENSP00000355518.3:p.Glu59Asp
ENST00000493477.1:n.290A>C
NM_000143.3:c.177A>C , LRG_504t1:c.177A>C	NP_000134.2:p.Glu59Asp
XM_011544132.1:c.-52A>C	XP_011542434.1:n.-52A>C
XM_011544132.2:c.-52A>C	XP_011542434.1:n.-52A>C
NM_000143.4:c.177A>C MANE Select	NP_000134.2:p.Glu59Asp