Canonical Allele Identifier: CA345438214

Gene: FH

Linked Data

• ClinVar Variation Id: 946722
• ClinVar RCV Id: RCV002339570 ; RCV002561926
• dbSNP Id: rs1659852423
• MyVariant Identifiers: chr1:g.241667434G>T (hg19) ; chr1:g.241504134G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504134G>T , CM000663.2:g.241504134G>T	GRCh38
NC_000001.10:g.241667434G>T , CM000663.1:g.241667434G>T	GRCh37
NC_000001.9:g.239734057G>T	NCBI36
NG_012338.1:g.20621C>A , LRG_504:g.20621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1519C>A
ENST00000682162.1:c.1045C>A	ENSP00000508203.1:n.1045C>A
ENST00000682567.1:n.1093C>A
ENST00000683521.1:c.1016C>A	ENSP00000506864.1:p.Ala339Glu
ENST00000684161.1:n.2231C>A
ENST00000684483.1:c.*412C>A	ENSP00000507894.1:n.*412C>A
ENST00000366560.4:c.1016C>A MANE Select	ENSP00000355518.4:p.Ala339Glu
ENST00000366560.3:c.1016C>A	ENSP00000355518.3:p.Ala339Glu
NM_000143.3:c.1016C>A , LRG_504t1:c.1016C>A	NP_000134.2:p.Ala339Glu
XM_011544132.1:c.788C>A	XP_011542434.1:p.Ala263Glu
XM_011544132.2:c.788C>A	XP_011542434.1:p.Ala263Glu
NM_000143.4:c.1016C>A MANE Select	NP_000134.2:p.Ala339Glu