Canonical Allele Identifier: CA345439971

Gene: FH

Linked Data

• ClinVar Variation Id: 958929
• ClinVar RCV Id: RCV002348780 ; RCV002563775
• dbSNP Id: rs1660097824
• MyVariant Identifiers: chr1:g.241675326C>T (hg19) ; chr1:g.241512026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512026C>T , CM000663.2:g.241512026C>T	GRCh38
NC_000001.10:g.241675326C>T , CM000663.1:g.241675326C>T	GRCh37
NC_000001.9:g.239741949C>T	NCBI36
NG_012338.1:g.12729G>A , LRG_504:g.12729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.999G>A
ENST00000682162.1:c.525G>A	ENSP00000508203.1:n.525G>A
ENST00000682567.1:n.573G>A
ENST00000683521.1:c.496G>A	ENSP00000506864.1:p.Gly166Arg
ENST00000684483.1:c.496G>A	ENSP00000507894.1:p.Gly166Arg
ENST00000366560.4:c.496G>A MANE Select	ENSP00000355518.4:p.Gly166Arg
ENST00000366560.3:c.496G>A	ENSP00000355518.3:p.Gly166Arg
ENST00000497042.1:n.192G>A
NM_000143.3:c.496G>A , LRG_504t1:c.496G>A	NP_000134.2:p.Gly166Arg
XM_011544132.1:c.268G>A	XP_011542434.1:p.Gly90Arg
XM_011544132.2:c.268G>A	XP_011542434.1:p.Gly90Arg
NM_000143.4:c.496G>A MANE Select	NP_000134.2:p.Gly166Arg