Canonical Allele Identifier: CA1478566
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 1767478
ClinVar RCV Id: RCV002374342 RCV003103592
dbSNP Id: rs766441385
ExAC: 1:241667492 C / T
gnomAD v2: 1-241667492-C-T
gnomAD v4: 1-241504192-C-T
COSMIC: COSM906405
MyVariant Identifiers: chr1:g.241667492C>T (hg19) chr1:g.241504192C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504192C>T , CM000663.2:g.241504192C>T GRCh38
NC_000001.10:g.241667492C>T , CM000663.1:g.241667492C>T GRCh37
NC_000001.9:g.239734115C>T NCBI36
NG_012338.1:g.20563G>A , LRG_504:g.20563G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1461G>A
ENST00000682162.1:c.987G>A ENSP00000508203.1:n.987G>A
ENST00000682567.1:n.1035G>A
ENST00000683521.1:c.958G>A ENSP00000506864.1:p.Ala320Thr
ENST00000684161.1:n.2173G>A
ENST00000684483.1:c.*354G>A ENSP00000507894.1:n.*354G>A
ENST00000366560.4:c.958G>A MANE Select ENSP00000355518.4:p.Ala320Thr
ENST00000366560.3:c.958G>A ENSP00000355518.3:p.Ala320Thr
NM_000143.3:c.958G>A , LRG_504t1:c.958G>A NP_000134.2:p.Ala320Thr
XM_011544132.1:c.730G>A XP_011542434.1:p.Ala244Thr
XM_011544132.2:c.730G>A XP_011542434.1:p.Ala244Thr
NM_000143.4:c.958G>A MANE Select NP_000134.2:p.Ala320Thr
Search 100 bp 5'
Search 100 bp 3'