Canonical Allele Identifier: CA345440048

Gene: FH

Linked Data

• ClinVar Variation Id: 1999252
• ClinVar RCV Id: RCV002815273
• dbSNP Id: rs2147921890
• MyVariant Identifiers: chr1:g.241675359C>T (hg19) ; chr1:g.241512059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512059C>T , CM000663.2:g.241512059C>T	GRCh38
NC_000001.10:g.241675359C>T , CM000663.1:g.241675359C>T	GRCh37
NC_000001.9:g.239741982C>T	NCBI36
NG_012338.1:g.12696G>A , LRG_504:g.12696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.966G>A
ENST00000682162.1:c.492G>A	ENSP00000508203.1:n.492G>A
ENST00000682567.1:n.540G>A
ENST00000683521.1:c.463G>A	ENSP00000506864.1:p.Glu155Lys
ENST00000684483.1:c.463G>A	ENSP00000507894.1:p.Glu155Lys
ENST00000366560.4:c.463G>A MANE Select	ENSP00000355518.4:p.Glu155Lys
ENST00000366560.3:c.463G>A	ENSP00000355518.3:p.Glu155Lys
ENST00000497042.1:n.159G>A
NM_000143.3:c.463G>A , LRG_504t1:c.463G>A	NP_000134.2:p.Glu155Lys
XM_011544132.1:c.235G>A	XP_011542434.1:p.Glu79Lys
XM_011544132.2:c.235G>A	XP_011542434.1:p.Glu79Lys
NM_000143.4:c.463G>A MANE Select	NP_000134.2:p.Glu155Lys