Canonical Allele Identifier: CA195071

Gene: FH

Linked Data

• ClinVar Variation Id: 186519
• ClinVar RCV Id: RCV000166128 ; RCV000345017
• dbSNP Id: rs11545654
• MyVariant Identifiers: chr1:g.241675385C>T (hg19) ; chr1:g.241512085C>T (hg38)
• PubMed: PMID:9665847 ; PMID:21904061

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512085C>T , CM000663.2:g.241512085C>T	GRCh38
NC_000001.10:g.241675385C>T , CM000663.1:g.241675385C>T	GRCh37
NC_000001.9:g.239742008C>T	NCBI36
NG_012338.1:g.12670G>A , LRG_504:g.12670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.940G>A
ENST00000682162.1:c.466G>A	ENSP00000508203.1:n.466G>A
ENST00000682567.1:n.514G>A
ENST00000683521.1:c.437G>A	ENSP00000506864.1:p.Gly146Glu
ENST00000684483.1:c.437G>A	ENSP00000507894.1:p.Gly146Glu
ENST00000366560.4:c.437G>A MANE Select	ENSP00000355518.4:p.Gly146Glu
ENST00000366560.3:c.437G>A	ENSP00000355518.3:p.Gly146Glu
ENST00000497042.1:n.133G>A
NM_000143.3:c.437G>A , LRG_504t1:c.437G>A	NP_000134.2:p.Gly146Glu
XM_011544132.1:c.209G>A	XP_011542434.1:p.Gly70Glu
XM_011544132.2:c.209G>A	XP_011542434.1:p.Gly70Glu
NM_000143.4:c.437G>A MANE Select	NP_000134.2:p.Gly146Glu