Canonical Allele Identifier: CA424075723
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 1795056
ClinVar RCV Id: RCV002437441
dbSNP Id: rs1281311797

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502569G>A , CM000663.2:g.241502569G>A GRCh38
NC_000001.10:g.241665869G>A , CM000663.1:g.241665869G>A GRCh37
NC_000001.9:g.239732492G>A NCBI36
NG_012338.1:g.22186C>T , LRG_504:g.22186C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1613C>T
ENST00000682162.1:c.1139C>T ENSP00000508203.1:n.1139C>T
ENST00000682567.1:n.2658C>T
ENST00000683521.1:c.1110C>T ENSP00000506864.1:p.Gly370=
ENST00000684161.1:n.2325C>T
ENST00000684483.1:c.*506C>T ENSP00000507894.1:n.*506C>T
ENST00000366560.4:c.1110C>T MANE Select ENSP00000355518.4:p.Gly370=
ENST00000366560.3:c.1110C>T ENSP00000355518.3:p.Gly370=
NM_000143.3:c.1110C>T , LRG_504t1:c.1110C>T NP_000134.2:p.Gly370=
XM_011544132.1:c.882C>T XP_011542434.1:p.Gly294=
XM_011544132.2:c.882C>T XP_011542434.1:p.Gly294=
NM_000143.4:c.1110C>T MANE Select NP_000134.2:p.Gly370=