Canonical Allele Identifier: CA1478635

Gene: FH

Linked Data

• ClinVar Variation Id: 662617
• ClinVar RCV Id: RCV001766736 ; RCV002363154
• dbSNP Id: rs778786425
• ExAC: 1:241671964 G / T
• gnomAD v2: 1-241671964-G-T
• gnomAD v4: 1-241508664-G-T
• MyVariant Identifiers: chr1:g.241671964G>T (hg19) ; chr1:g.241508664G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508664G>T , CM000663.2:g.241508664G>T	GRCh38
NC_000001.10:g.241671964G>T , CM000663.1:g.241671964G>T	GRCh37
NC_000001.9:g.239738587G>T	NCBI36
NG_012338.1:g.16091C>A , LRG_504:g.16091C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1180C>A
ENST00000682162.1:c.706C>A	ENSP00000508203.1:n.706C>A
ENST00000682567.1:n.754C>A
ENST00000683521.1:c.677C>A	ENSP00000506864.1:p.Ala226Glu
ENST00000684161.1:n.1892C>A
ENST00000684483.1:c.*73C>A	ENSP00000507894.1:n.*73C>A
ENST00000366560.4:c.677C>A MANE Select	ENSP00000355518.4:p.Ala226Glu
ENST00000366560.3:c.677C>A	ENSP00000355518.3:p.Ala226Glu
NM_000143.3:c.677C>A , LRG_504t1:c.677C>A	NP_000134.2:p.Ala226Glu
XM_011544132.1:c.449C>A	XP_011542434.1:p.Ala150Glu
XM_011544132.2:c.449C>A	XP_011542434.1:p.Ala150Glu
NM_000143.4:c.677C>A MANE Select	NP_000134.2:p.Ala226Glu