Canonical Allele Identifier: CA257453

Gene: FH

Linked Data

• ClinVar Variation Id: 16231
• ClinVar RCV Id: RCV000017618 ; RCV002426509
• dbSNP Id: rs121913119
• MyVariant Identifiers: chr1:g.241667366C>G (hg19) ; chr1:g.241504066C>G (hg38)
• PubMed: PMID:8200987

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504066C>G , CM000663.2:g.241504066C>G	GRCh38
NC_000001.10:g.241667366C>G , CM000663.1:g.241667366C>G	GRCh37
NC_000001.9:g.239733989C>G	NCBI36
NG_012338.1:g.20689G>C , LRG_504:g.20689G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1587G>C
ENST00000682162.1:c.1113G>C	ENSP00000508203.1:n.1113G>C
ENST00000682567.1:n.1161G>C
ENST00000683521.1:c.1084G>C	ENSP00000506864.1:p.Glu362Gln
ENST00000684161.1:n.2299G>C
ENST00000684483.1:c.*480G>C	ENSP00000507894.1:n.*480G>C
ENST00000366560.4:c.1084G>C MANE Select	ENSP00000355518.4:p.Glu362Gln
ENST00000366560.3:c.1084G>C	ENSP00000355518.3:p.Glu362Gln
NM_000143.3:c.1084G>C , LRG_504t1:c.1084G>C	NP_000134.2:p.Glu362Gln
XM_011544132.1:c.856G>C	XP_011542434.1:p.Glu286Gln
XM_011544132.2:c.856G>C	XP_011542434.1:p.Glu286Gln
NM_000143.4:c.1084G>C MANE Select	NP_000134.2:p.Glu362Gln