Canonical Allele Identifier: CA189211
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241502552T>G
GRCh37 chr1:g.241665852T>G
Revel Score:
ENST00000366560 (MANE Select) 0.970
gnomAD v2:
1:241665852 T / G
gnomAD v3:
1:241502552 T / G
gnomAD v4:
chr1-241502552-T-G
Joint Max Group AF 0.00004182 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00004005 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502552T>G , CM000663.2:g.241502552T>G GRCh38
NC_000001.10:g.241665852T>G , CM000663.1:g.241665852T>G GRCh37
NC_000001.9:g.239732475T>G NCBI36
NG_012338.1:g.22203A>C , LRG_504:g.22203A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1630A>C
ENST00000682162.1:c.1156A>C ENSP00000508203.1:n.1156A>C
ENST00000682567.1:n.2675A>C
ENST00000683521.1:c.1127A>C ENSP00000506864.1:p.Gln376Pro
ENST00000684161.1:n.2342A>C
ENST00000684483.1:c.*523A>C ENSP00000507894.1:n.*523A>C
ENST00000366560.4:c.1127A>C MANE Select ENSP00000355518.4:p.Gln376Pro
ENST00000366560.3:c.1127A>C ENSP00000355518.3:p.Gln376Pro
NM_000143.3:c.1127A>C , LRG_504t1:c.1127A>C NP_000134.2:p.Gln376Pro
XM_011544132.1:c.899A>C XP_011542434.1:p.Gln300Pro
XM_011544132.2:c.899A>C XP_011542434.1:p.Gln300Pro
NM_000143.4:c.1127A>C MANE Select NP_000134.2:p.Gln376Pro
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