Canonical Allele Identifier: CA1478555
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241504101C>T
GRCh37 chr1:g.241667401C>T
Revel Score:
ENST00000366560 (MANE Select) 0.925
gnomAD v2:
1:241667401 C / T
gnomAD v3:
1:241504101 C / T
gnomAD v4:
chr1-241504101-C-T
Joint Max Group AF 0.00001724 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00001627 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504101C>T , CM000663.2:g.241504101C>T GRCh38
NC_000001.10:g.241667401C>T , CM000663.1:g.241667401C>T GRCh37
NC_000001.9:g.239734024C>T NCBI36
NG_012338.1:g.20654G>A , LRG_504:g.20654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1552G>A
ENST00000682162.1:c.1078G>A ENSP00000508203.1:n.1078G>A
ENST00000682567.1:n.1126G>A
ENST00000683521.1:c.1049G>A ENSP00000506864.1:p.Arg350Gln
ENST00000684161.1:n.2264G>A
ENST00000684483.1:c.*445G>A ENSP00000507894.1:n.*445G>A
ENST00000366560.4:c.1049G>A MANE Select ENSP00000355518.4:p.Arg350Gln
ENST00000366560.3:c.1049G>A ENSP00000355518.3:p.Arg350Gln
NM_000143.3:c.1049G>A , LRG_504t1:c.1049G>A NP_000134.2:p.Arg350Gln
XM_011544132.1:c.821G>A XP_011542434.1:p.Arg274Gln
XM_011544132.2:c.821G>A XP_011542434.1:p.Arg274Gln
NM_000143.4:c.1049G>A MANE Select NP_000134.2:p.Arg350Gln
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