Canonical Allele Identifier: CA424076280

Gene: FH

Linked Data

• ClinVar Variation Id: 1745219
• ClinVar RCV Id: RCV002335889 ; RCV003776030
• dbSNP Id: rs1660097256
• gnomAD v4: 1-241512015-A-C
• MyVariant Identifiers: chr1:g.241675315A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512015A>C , CM000663.2:g.241512015A>C	GRCh38
NC_000001.10:g.241675315A>C , CM000663.1:g.241675315A>C	GRCh37
NC_000001.9:g.239741938A>C	NCBI36
NG_012338.1:g.12740T>G , LRG_504:g.12740T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1010T>G
ENST00000682162.1:c.536T>G	ENSP00000508203.1:n.536T>G
ENST00000682567.1:n.584T>G
ENST00000683521.1:c.507T>G	ENSP00000506864.1:p.Leu169=
ENST00000684483.1:c.507T>G	ENSP00000507894.1:p.Leu169=
ENST00000366560.4:c.507T>G MANE Select	ENSP00000355518.4:p.Leu169=
ENST00000366560.3:c.507T>G	ENSP00000355518.3:p.Leu169=
ENST00000497042.1:n.203T>G
NM_000143.3:c.507T>G , LRG_504t1:c.507T>G	NP_000134.2:p.Leu169=
XM_011544132.1:c.279T>G	XP_011542434.1:p.Leu93=
XM_011544132.2:c.279T>G	XP_011542434.1:p.Leu93=
NM_000143.4:c.507T>G MANE Select	NP_000134.2:p.Leu169=