Canonical Allele Identifier: CA424076620
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 1774821
ClinVar RCV Id: RCV002403145
dbSNP Id: rs757002779
MyVariant Identifiers: chr1:g.241680596C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517296C>G , CM000663.2:g.241517296C>G GRCh38
NC_000001.10:g.241680596C>G , CM000663.1:g.241680596C>G GRCh37
NC_000001.9:g.239747219C>G NCBI36
NG_012338.1:g.7459G>C , LRG_504:g.7459G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.656G>C
ENST00000682162.1:c.182G>C ENSP00000508203.1:p.Gly61Ala
ENST00000682567.1:n.230G>C
ENST00000683521.1:c.153G>C ENSP00000506864.1:p.Arg51=
ENST00000684483.1:c.153G>C ENSP00000507894.1:p.Arg51=
ENST00000366560.4:c.153G>C MANE Select ENSP00000355518.4:p.Arg51=
ENST00000366560.3:c.153G>C ENSP00000355518.3:p.Arg51=
ENST00000493477.1:n.266G>C
NM_000143.3:c.153G>C , LRG_504t1:c.153G>C NP_000134.2:p.Arg51=
XM_011544132.1:c.-76G>C XP_011542434.1:n.-76G>C
XM_011544132.2:c.-76G>C XP_011542434.1:n.-76G>C
NM_000143.4:c.153G>C MANE Select NP_000134.2:p.Arg51=