Canonical Allele Identifier: CA424076627

Gene: FH

Linked Data

• ClinVar Variation Id: 702399
• ClinVar RCV Id: RCV003657039 ; RCV001011451
• dbSNP Id: rs1573888563
• gnomAD v4: 1-241517308-T-C
• MyVariant Identifiers: chr1:g.241680608T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517308T>C , CM000663.2:g.241517308T>C	GRCh38
NC_000001.10:g.241680608T>C , CM000663.1:g.241680608T>C	GRCh37
NC_000001.9:g.239747231T>C	NCBI36
NG_012338.1:g.7447A>G , LRG_504:g.7447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.644A>G
ENST00000682162.1:c.170A>G	ENSP00000508203.1:p.Lys57Arg
ENST00000682567.1:n.218A>G
ENST00000683521.1:c.141A>G	ENSP00000506864.1:p.Gln47=
ENST00000684483.1:c.141A>G	ENSP00000507894.1:p.Gln47=
ENST00000366560.4:c.141A>G MANE Select	ENSP00000355518.4:p.Gln47=
ENST00000366560.3:c.141A>G	ENSP00000355518.3:p.Gln47=
ENST00000493477.1:n.254A>G
NM_000143.3:c.141A>G , LRG_504t1:c.141A>G	NP_000134.2:p.Gln47=
XM_011544132.1:c.-88A>G	XP_011542434.1:n.-88A>G
XM_011544132.2:c.-88A>G	XP_011542434.1:n.-88A>G
NM_000143.4:c.141A>G MANE Select	NP_000134.2:p.Gln47=