Canonical Allele Identifier: CA345437719

Gene: FH

Linked Data

• ClinVar Variation Id: 529806
• ClinVar RCV Id: RCV002533196
• dbSNP Id: rs1553340894
• MyVariant Identifiers: chr1:g.241665870C>T (hg19) ; chr1:g.241502570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502570C>T , CM000663.2:g.241502570C>T	GRCh38
NC_000001.10:g.241665870C>T , CM000663.1:g.241665870C>T	GRCh37
NC_000001.9:g.239732493C>T	NCBI36
NG_012338.1:g.22185G>A , LRG_504:g.22185G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1612G>A
ENST00000682162.1:c.1138G>A	ENSP00000508203.1:n.1138G>A
ENST00000682567.1:n.2657G>A
ENST00000683521.1:c.1109G>A	ENSP00000506864.1:p.Gly370Asp
ENST00000684161.1:n.2324G>A
ENST00000684483.1:c.*505G>A	ENSP00000507894.1:n.*505G>A
ENST00000366560.4:c.1109G>A MANE Select	ENSP00000355518.4:p.Gly370Asp
ENST00000366560.3:c.1109G>A	ENSP00000355518.3:p.Gly370Asp
NM_000143.3:c.1109G>A , LRG_504t1:c.1109G>A	NP_000134.2:p.Gly370Asp
XM_011544132.1:c.881G>A	XP_011542434.1:p.Gly294Asp
XM_011544132.2:c.881G>A	XP_011542434.1:p.Gly294Asp
NM_000143.4:c.1109G>A MANE Select	NP_000134.2:p.Gly370Asp