Canonical Allele Identifier: CA345439985

Gene: FH

Linked Data

• ClinVar Variation Id: 1995033
• ClinVar RCV Id: RCV002791579
• MyVariant Identifiers: chr1:g.241675331A>C (hg19) ; chr1:g.241512031A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512031A>C , CM000663.2:g.241512031A>C	GRCh38
NC_000001.10:g.241675331A>C , CM000663.1:g.241675331A>C	GRCh37
NC_000001.9:g.239741954A>C	NCBI36
NG_012338.1:g.12724T>G , LRG_504:g.12724T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.994T>G
ENST00000682162.1:c.520T>G	ENSP00000508203.1:n.520T>G
ENST00000682567.1:n.568T>G
ENST00000683521.1:c.491T>G	ENSP00000506864.1:p.Met164Arg
ENST00000684483.1:c.491T>G	ENSP00000507894.1:p.Met164Arg
ENST00000366560.4:c.491T>G MANE Select	ENSP00000355518.4:p.Met164Arg
ENST00000366560.3:c.491T>G	ENSP00000355518.3:p.Met164Arg
ENST00000497042.1:n.187T>G
NM_000143.3:c.491T>G , LRG_504t1:c.491T>G	NP_000134.2:p.Met164Arg
XM_011544132.1:c.263T>G	XP_011542434.1:p.Met88Arg
XM_011544132.2:c.263T>G	XP_011542434.1:p.Met88Arg
NM_000143.4:c.491T>G MANE Select	NP_000134.2:p.Met164Arg