Canonical Allele Identifier: CA424076060

Gene: FH

Linked Data

• ClinVar Variation Id: 682559
• ClinVar RCV Id: RCV000842673 ; RCV001025541
• dbSNP Id: rs1573883183
• gnomAD v4: 1-241508672-T-C
• MyVariant Identifiers: chr1:g.241671972T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508672T>C , CM000663.2:g.241508672T>C	GRCh38
NC_000001.10:g.241671972T>C , CM000663.1:g.241671972T>C	GRCh37
NC_000001.9:g.239738595T>C	NCBI36
NG_012338.1:g.16083A>G , LRG_504:g.16083A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1172A>G
ENST00000682162.1:c.698A>G	ENSP00000508203.1:n.698A>G
ENST00000682567.1:n.746A>G
ENST00000683521.1:c.669A>G	ENSP00000506864.1:p.Lys223=
ENST00000684161.1:n.1884A>G
ENST00000684483.1:c.*65A>G	ENSP00000507894.1:n.*65A>G
ENST00000366560.4:c.669A>G MANE Select	ENSP00000355518.4:p.Lys223=
ENST00000366560.3:c.669A>G	ENSP00000355518.3:p.Lys223=
NM_000143.3:c.669A>G , LRG_504t1:c.669A>G	NP_000134.2:p.Lys223=
XM_011544132.1:c.441A>G	XP_011542434.1:p.Lys147=
XM_011544132.2:c.441A>G	XP_011542434.1:p.Lys147=
NM_000143.4:c.669A>G MANE Select	NP_000134.2:p.Lys223=