Canonical Allele Identifier: CA424076011

Gene: FH

Linked Data

• ClinVar Variation Id: 1134256
• ClinVar RCV Id: RCV002384752 ; RCV003104120
• dbSNP Id: rs1448288377
• gnomAD v4: 1-241508606-C-G
• MyVariant Identifiers: chr1:g.241671906C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508606C>G , CM000663.2:g.241508606C>G	GRCh38
NC_000001.10:g.241671906C>G , CM000663.1:g.241671906C>G	GRCh37
NC_000001.9:g.239738529C>G	NCBI36
NG_012338.1:g.16149G>C , LRG_504:g.16149G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1238G>C
ENST00000682162.1:c.764G>C	ENSP00000508203.1:n.764G>C
ENST00000682567.1:n.812G>C
ENST00000683521.1:c.735G>C	ENSP00000506864.1:p.Gly245=
ENST00000684161.1:n.1950G>C
ENST00000684483.1:c.*131G>C	ENSP00000507894.1:n.*131G>C
ENST00000366560.4:c.735G>C MANE Select	ENSP00000355518.4:p.Gly245=
ENST00000366560.3:c.735G>C	ENSP00000355518.3:p.Gly245=
NM_000143.3:c.735G>C , LRG_504t1:c.735G>C	NP_000134.2:p.Gly245=
XM_011544132.1:c.507G>C	XP_011542434.1:p.Gly169=
XM_011544132.2:c.507G>C	XP_011542434.1:p.Gly169=
NM_000143.4:c.735G>C MANE Select	NP_000134.2:p.Gly245=