Canonical Allele Identifier: CA1478433
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241497899C>T
GRCh37 chr1:g.241661199C>T
Revel Score:
ENST00000366560 (MANE Select) 0.253
gnomAD v2:
1:241661199 C / T
gnomAD v3:
1:241497899 C / T
gnomAD v4:
chr1-241497899-C-T
Joint Max Group AF 0.00004183 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004178 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241497899C>T , CM000663.2:g.241497899C>T GRCh38
NC_000001.10:g.241661199C>T , CM000663.1:g.241661199C>T GRCh37
NC_000001.9:g.239727822C>T NCBI36
NG_012338.1:g.26856G>A , LRG_504:g.26856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1965G>A
ENST00000682162.1:c.1491G>A ENSP00000508203.1:n.1491G>A
ENST00000682567.1:n.4862G>A
ENST00000684161.1:n.2677G>A
ENST00000684483.1:c.*858G>A ENSP00000507894.1:n.*858G>A
ENST00000366560.4:c.1462G>A MANE Select ENSP00000355518.4:p.Glu488Lys
ENST00000366560.3:c.1462G>A ENSP00000355518.3:p.Glu488Lys
NM_000143.3:c.1462G>A , LRG_504t1:c.1462G>A NP_000134.2:p.Glu488Lys
XM_011544132.1:c.1234G>A XP_011542434.1:p.Glu412Lys
XM_011544132.2:c.1234G>A XP_011542434.1:p.Glu412Lys
NM_000143.4:c.1462G>A MANE Select NP_000134.2:p.Glu488Lys
Search 100 bp 5'
Search 100 bp 3'