Canonical Allele Identifier: CA40331857
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 460360
dbSNP Id: rs201154463

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512008T>C , CM000663.2:g.241512008T>C GRCh38
NC_000001.10:g.241675308T>C , CM000663.1:g.241675308T>C GRCh37
NC_000001.9:g.239741931T>C NCBI36
NG_012338.1:g.12747A>G , LRG_504:g.12747A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1017A>G
ENST00000682162.1:c.543A>G ENSP00000508203.1:n.543A>G
ENST00000682567.1:n.591A>G
ENST00000683521.1:c.514A>G ENSP00000506864.1:p.Lys172Glu
ENST00000684483.1:c.514A>G ENSP00000507894.1:p.Lys172Glu
ENST00000366560.4:c.514A>G MANE Select ENSP00000355518.4:p.Lys172Glu
ENST00000366560.3:c.514A>G ENSP00000355518.3:p.Lys172Glu
ENST00000497042.1:n.210A>G
NM_000143.3:c.514A>G , LRG_504t1:c.514A>G NP_000134.2:p.Lys172Glu
XM_011544132.1:c.286A>G XP_011542434.1:p.Lys96Glu
XM_011544132.2:c.286A>G XP_011542434.1:p.Lys96Glu
NM_000143.4:c.514A>G MANE Select NP_000134.2:p.Lys172Glu