Canonical Allele Identifier: CA321905

Gene: FH

Linked Data

• ClinVar Variation Id: 214390
• ClinVar RCV Id: RCV000197441 ; RCV000456662 ; RCV001013787
• dbSNP Id: rs145116688
• ExAC: 1:241680555 T / C
• gnomAD v2: 1-241680555-T-C
• gnomAD v3: 1-241517255-T-C
• gnomAD v4: 1-241517255-T-C
• MyVariant Identifiers: chr1:g.241680555T>C (hg19) ; chr1:g.241517255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517255T>C , CM000663.2:g.241517255T>C	GRCh38
NC_000001.10:g.241680555T>C , CM000663.1:g.241680555T>C	GRCh37
NC_000001.9:g.239747178T>C	NCBI36
NG_012338.1:g.7500A>G , LRG_504:g.7500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.697A>G
ENST00000682162.1:c.223A>G	ENSP00000508203.1:n.223A>G
ENST00000682567.1:n.271A>G
ENST00000683521.1:c.194A>G	ENSP00000506864.1:p.Asp65Gly
ENST00000684483.1:c.194A>G	ENSP00000507894.1:p.Asp65Gly
ENST00000366560.4:c.194A>G MANE Select	ENSP00000355518.4:p.Asp65Gly
ENST00000366560.3:c.194A>G	ENSP00000355518.3:p.Asp65Gly
ENST00000493477.1:n.307A>G
NM_000143.3:c.194A>G , LRG_504t1:c.194A>G	NP_000134.2:p.Asp65Gly
XM_011544132.1:c.-35A>G	XP_011542434.1:n.-35A>G
XM_011544132.2:c.-35A>G	XP_011542434.1:n.-35A>G
NM_000143.4:c.194A>G MANE Select	NP_000134.2:p.Asp65Gly