Canonical Allele Identifier: CA1478749

Gene: FH

Linked Data

• ClinVar Variation Id: 1650323
• ClinVar RCV Id: RCV003081050
• dbSNP Id: rs556439883
• ExAC: 1:241680551 C / T
• gnomAD v2: 1-241680551-C-T
• gnomAD v3: 1-241517251-C-T
• gnomAD v4: 1-241517251-C-T
• MyVariant Identifiers: chr1:g.241680551C>T (hg19) ; chr1:g.241517251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517251C>T , CM000663.2:g.241517251C>T	GRCh38
NC_000001.10:g.241680551C>T , CM000663.1:g.241680551C>T	GRCh37
NC_000001.9:g.239747174C>T	NCBI36
NG_012338.1:g.7504G>A , LRG_504:g.7504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.701G>A
ENST00000682162.1:c.227G>A	ENSP00000508203.1:n.227G>A
ENST00000682567.1:n.275G>A
ENST00000683521.1:c.198G>A	ENSP00000506864.1:p.Lys66=
ENST00000684483.1:c.198G>A	ENSP00000507894.1:p.Lys66=
ENST00000366560.4:c.198G>A MANE Select	ENSP00000355518.4:p.Lys66=
ENST00000366560.3:c.198G>A	ENSP00000355518.3:p.Lys66=
ENST00000493477.1:n.311G>A
NM_000143.3:c.198G>A , LRG_504t1:c.198G>A	NP_000134.2:p.Lys66=
XM_011544132.1:c.-31G>A	XP_011542434.1:n.-31G>A
XM_011544132.2:c.-31G>A	XP_011542434.1:n.-31G>A
NM_000143.4:c.198G>A MANE Select	NP_000134.2:p.Lys66=