Canonical Allele Identifier: CA1478565
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 1363883
dbSNP Id: rs763077972

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504189G>C , CM000663.2:g.241504189G>C GRCh38
NC_000001.10:g.241667489G>C , CM000663.1:g.241667489G>C GRCh37
NC_000001.9:g.239734112G>C NCBI36
NG_012338.1:g.20566C>G , LRG_504:g.20566C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1464C>G
ENST00000682162.1:c.990C>G ENSP00000508203.1:n.990C>G
ENST00000682567.1:n.1038C>G
ENST00000683521.1:c.961C>G ENSP00000506864.1:p.Leu321Val
ENST00000684161.1:n.2176C>G
ENST00000684483.1:c.*357C>G ENSP00000507894.1:n.*357C>G
ENST00000366560.4:c.961C>G MANE Select ENSP00000355518.4:p.Leu321Val
ENST00000366560.3:c.961C>G ENSP00000355518.3:p.Leu321Val
NM_000143.3:c.961C>G , LRG_504t1:c.961C>G NP_000134.2:p.Leu321Val
XM_011544132.1:c.733C>G XP_011542434.1:p.Leu245Val
XM_011544132.2:c.733C>G XP_011542434.1:p.Leu245Val
NM_000143.4:c.961C>G MANE Select NP_000134.2:p.Leu321Val