Canonical Allele Identifier: CA16609377

Gene: FH

Linked Data

• ClinVar Variation Id: 393560
• ClinVar RCV Id: RCV000445632 ; RCV000626620 ; RCV002526367
• dbSNP Id: rs1060499630
• MyVariant Identifiers: chr1:g.241676959G>A (hg19) ; chr1:g.241513659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513659G>A , CM000663.2:g.241513659G>A	GRCh38
NC_000001.10:g.241676959G>A , CM000663.1:g.241676959G>A	GRCh37
NC_000001.9:g.239743582G>A	NCBI36
NG_012338.1:g.11096C>T , LRG_504:g.11096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.825C>T
ENST00000682162.1:c.351C>T	ENSP00000508203.1:n.351C>T
ENST00000682567.1:n.399C>T
ENST00000683521.1:c.322C>T	ENSP00000506864.1:p.Gln108Ter
ENST00000684483.1:c.322C>T	ENSP00000507894.1:p.Gln108Ter
ENST00000366560.4:c.322C>T MANE Select	ENSP00000355518.4:p.Gln108Ter
ENST00000366560.3:c.322C>T	ENSP00000355518.3:p.Gln108Ter
ENST00000497042.1:n.18C>T
NM_000143.3:c.322C>T , LRG_504t1:c.322C>T	NP_000134.2:p.Gln108Ter
XM_011544132.1:c.94C>T	XP_011542434.1:p.Gln32Ter
XM_011544132.2:c.94C>T	XP_011542434.1:p.Gln32Ter
NM_000143.4:c.322C>T MANE Select	NP_000134.2:p.Gln108Ter