Canonical Allele Identifier: CA285319
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241504130A>T
GRCh37 chr1:g.241667430A>T
Revel Score:
ENST00000366560 (MANE Select) 0.885
gnomAD v2:
1:241667430 A / T
gnomAD v4:
chr1-241504130-A-T
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504130A>T , CM000663.2:g.241504130A>T GRCh38
NC_000001.10:g.241667430A>T , CM000663.1:g.241667430A>T GRCh37
NC_000001.9:g.239734053A>T NCBI36
NG_012338.1:g.20625T>A , LRG_504:g.20625T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1523T>A
ENST00000682162.1:c.1049T>A ENSP00000508203.1:n.1049T>A
ENST00000682567.1:n.1097T>A
ENST00000683521.1:c.1020T>A ENSP00000506864.1:p.Asn340Lys
ENST00000684161.1:n.2235T>A
ENST00000684483.1:c.*416T>A ENSP00000507894.1:n.*416T>A
ENST00000366560.4:c.1020T>A MANE Select ENSP00000355518.4:p.Asn340Lys
ENST00000366560.3:c.1020T>A ENSP00000355518.3:p.Asn340Lys
NM_000143.3:c.1020T>A , LRG_504t1:c.1020T>A NP_000134.2:p.Asn340Lys
XM_011544132.1:c.792T>A XP_011542434.1:p.Asn264Lys
XM_011544132.2:c.792T>A XP_011542434.1:p.Asn264Lys
NM_000143.4:c.1020T>A MANE Select NP_000134.2:p.Asn340Lys
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