Canonical Allele Identifier: CA215566
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241497940G>C
GRCh37 chr1:g.241661240G>C
Revel Score:
ENST00000366560 (MANE Select) 0.507
gnomAD v2:
1:241661240 G / C
gnomAD v3:
1:241497940 G / C
gnomAD v4:
chr1-241497940-G-C
Joint Max Group AF 0.00063387 (EAS)
Genomes Max Group AF 0.00026269 (EAS)
Exomes Max Group AF 0.00063034 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241497940G>C , CM000663.2:g.241497940G>C GRCh38
NC_000001.10:g.241661240G>C , CM000663.1:g.241661240G>C GRCh37
NC_000001.9:g.239727863G>C NCBI36
NG_012338.1:g.26815C>G , LRG_504:g.26815C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1924C>G
ENST00000682162.1:c.1450C>G ENSP00000508203.1:n.1450C>G
ENST00000682567.1:n.4821C>G
ENST00000684161.1:n.2636C>G
ENST00000684483.1:c.*817C>G ENSP00000507894.1:n.*817C>G
ENST00000366560.4:c.1421C>G MANE Select ENSP00000355518.4:p.Thr474Arg
ENST00000366560.3:c.1421C>G ENSP00000355518.3:p.Thr474Arg
NM_000143.3:c.1421C>G , LRG_504t1:c.1421C>G NP_000134.2:p.Thr474Arg
XM_011544132.1:c.1193C>G XP_011542434.1:p.Thr398Arg
XM_011544132.2:c.1193C>G XP_011542434.1:p.Thr398Arg
NM_000143.4:c.1421C>G MANE Select NP_000134.2:p.Thr474Arg
Search 100 bp 5'
Search 100 bp 3'