Canonical Allele Identifier: CA1478650
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393567
ClinVar RCV Id: RCV000445604 RCV000492920 RCV002522732
dbSNP Id: rs398123166
ExAC: 1:241672081 G / A
gnomAD v2: 1-241672081-G-A
gnomAD v4: 1-241508781-G-A
MyVariant Identifiers: chr1:g.241672081G>A (hg19) chr1:g.241508781G>A (hg38)
PubMed: PMID:12772087 PMID:21445611 PMID:22561013
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508781G>A , CM000663.2:g.241508781G>A GRCh38
NC_000001.10:g.241672081G>A , CM000663.1:g.241672081G>A GRCh37
NC_000001.9:g.239738704G>A NCBI36
NG_012338.1:g.15974C>T , LRG_504:g.15974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1063C>T
ENST00000682162.1:c.589C>T ENSP00000508203.1:n.589C>T
ENST00000682567.1:n.637C>T
ENST00000683521.1:c.560C>T ENSP00000506864.1:p.Ser187Leu
ENST00000684161.1:n.1775C>T
ENST00000684483.1:c.556-21C>T ENSP00000507894.1:n.556-21C>T
ENST00000366560.4:c.560C>T MANE Select ENSP00000355518.4:p.Ser187Leu
ENST00000366560.3:c.560C>T ENSP00000355518.3:p.Ser187Leu
NM_000143.3:c.560C>T , LRG_504t1:c.560C>T NP_000134.2:p.Ser187Leu
XM_011544132.1:c.332C>T XP_011542434.1:p.Ser111Leu
XM_011544132.2:c.332C>T XP_011542434.1:p.Ser111Leu
NM_000143.4:c.560C>T MANE Select NP_000134.2:p.Ser187Leu
Search 100 bp 5'
Search 100 bp 3'