Canonical Allele Identifier: CA40327914
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 823349
ClinVar RCV Id: RCV001019524
dbSNP Id: rs202147731

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504191G>A , CM000663.2:g.241504191G>A GRCh38
NC_000001.10:g.241667491G>A , CM000663.1:g.241667491G>A GRCh37
NC_000001.9:g.239734114G>A NCBI36
NG_012338.1:g.20564C>T , LRG_504:g.20564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1462C>T
ENST00000682162.1:c.988C>T ENSP00000508203.1:n.988C>T
ENST00000682567.1:n.1036C>T
ENST00000683521.1:c.959C>T ENSP00000506864.1:p.Ala320Val
ENST00000684161.1:n.2174C>T
ENST00000684483.1:c.*355C>T ENSP00000507894.1:n.*355C>T
ENST00000366560.4:c.959C>T MANE Select ENSP00000355518.4:p.Ala320Val
ENST00000366560.3:c.959C>T ENSP00000355518.3:p.Ala320Val
NM_000143.3:c.959C>T , LRG_504t1:c.959C>T NP_000134.2:p.Ala320Val
XM_011544132.1:c.731C>T XP_011542434.1:p.Ala244Val
XM_011544132.2:c.731C>T XP_011542434.1:p.Ala244Val
NM_000143.4:c.959C>T MANE Select NP_000134.2:p.Ala320Val