Canonical Allele Identifier: CA40371763
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241497953T>C
GRCh37 chr1:g.241661253T>C
Revel Score:
ENST00000366560 (MANE Select) 0.281
gnomAD v2:
1:241661253 T / C
gnomAD v3:
1:241497953 T / C
gnomAD v4:
chr1-241497953-T-C
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241497953T>C , CM000663.2:g.241497953T>C GRCh38
NC_000001.10:g.241661253T>C , CM000663.1:g.241661253T>C GRCh37
NC_000001.9:g.239727876T>C NCBI36
NG_012338.1:g.26802A>G , LRG_504:g.26802A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1911A>G
ENST00000682162.1:c.1437A>G ENSP00000508203.1:n.1437A>G
ENST00000682567.1:n.4808A>G
ENST00000684161.1:n.2623A>G
ENST00000684483.1:c.*804A>G ENSP00000507894.1:n.*804A>G
ENST00000366560.4:c.1408A>G MANE Select ENSP00000355518.4:p.Lys470Glu
ENST00000366560.3:c.1408A>G ENSP00000355518.3:p.Lys470Glu
NM_000143.3:c.1408A>G , LRG_504t1:c.1408A>G NP_000134.2:p.Lys470Glu
XM_011544132.1:c.1180A>G XP_011542434.1:p.Lys394Glu
XM_011544132.2:c.1180A>G XP_011542434.1:p.Lys394Glu
NM_000143.4:c.1408A>G MANE Select NP_000134.2:p.Lys470Glu
Search 100 bp 5'
Search 100 bp 3'