Canonical Allele Identifier: CA345438118

Gene: FH

Linked Data

• ClinVar Variation Id: 1018142
• ClinVar RCV Id: RCV002543724
• dbSNP Id: rs1659850534
• MyVariant Identifiers: chr1:g.241667395C>T (hg19) ; chr1:g.241504095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504095C>T , CM000663.2:g.241504095C>T	GRCh38
NC_000001.10:g.241667395C>T , CM000663.1:g.241667395C>T	GRCh37
NC_000001.9:g.239734018C>T	NCBI36
NG_012338.1:g.20660G>A , LRG_504:g.20660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1558G>A
ENST00000682162.1:c.1084G>A	ENSP00000508203.1:n.1084G>A
ENST00000682567.1:n.1132G>A
ENST00000683521.1:c.1055G>A	ENSP00000506864.1:p.Gly352Asp
ENST00000684161.1:n.2270G>A
ENST00000684483.1:c.*451G>A	ENSP00000507894.1:n.*451G>A
ENST00000366560.4:c.1055G>A MANE Select	ENSP00000355518.4:p.Gly352Asp
ENST00000366560.3:c.1055G>A	ENSP00000355518.3:p.Gly352Asp
NM_000143.3:c.1055G>A , LRG_504t1:c.1055G>A	NP_000134.2:p.Gly352Asp
XM_011544132.1:c.827G>A	XP_011542434.1:p.Gly276Asp
XM_011544132.2:c.827G>A	XP_011542434.1:p.Gly276Asp
NM_000143.4:c.1055G>A MANE Select	NP_000134.2:p.Gly352Asp