Canonical Allele Identifier: CA16603671

Gene: FH

Linked Data

• ClinVar Variation Id: 388641
• ClinVar RCV Id: RCV000418837 ; RCV002411379
• dbSNP Id: rs1057523184
• MyVariant Identifiers: chr1:g.241667389C>T (hg19) ; chr1:g.241504089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504089C>T , CM000663.2:g.241504089C>T	GRCh38
NC_000001.10:g.241667389C>T , CM000663.1:g.241667389C>T	GRCh37
NC_000001.9:g.239734012C>T	NCBI36
NG_012338.1:g.20666G>A , LRG_504:g.20666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1564G>A
ENST00000682162.1:c.1090G>A	ENSP00000508203.1:n.1090G>A
ENST00000682567.1:n.1138G>A
ENST00000683521.1:c.1061G>A	ENSP00000506864.1:p.Gly354Glu
ENST00000684161.1:n.2276G>A
ENST00000684483.1:c.*457G>A	ENSP00000507894.1:n.*457G>A
ENST00000366560.4:c.1061G>A MANE Select	ENSP00000355518.4:p.Gly354Glu
ENST00000366560.3:c.1061G>A	ENSP00000355518.3:p.Gly354Glu
NM_000143.3:c.1061G>A , LRG_504t1:c.1061G>A	NP_000134.2:p.Gly354Glu
XM_011544132.1:c.833G>A	XP_011542434.1:p.Gly278Glu
XM_011544132.2:c.833G>A	XP_011542434.1:p.Gly278Glu
NM_000143.4:c.1061G>A MANE Select	NP_000134.2:p.Gly354Glu