Canonical Allele Identifier: CA1478738
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241517190G>A
GRCh37 chr1:g.241680490G>A
Revel Score:
ENST00000366560 (MANE Select) 0.933
gnomAD v2:
1:241680490 G / A
gnomAD v3:
1:241517190 G / A
gnomAD v4:
chr1-241517190-G-A
Joint Max Group AF 0.00007231 (AFR)
Genomes Max Group AF 0.00006288 (AFR)
Exomes Max Group AF 0.00003982 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517190G>A , CM000663.2:g.241517190G>A GRCh38
NC_000001.10:g.241680490G>A , CM000663.1:g.241680490G>A GRCh37
NC_000001.9:g.239747113G>A NCBI36
NG_012338.1:g.7565C>T , LRG_504:g.7565C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.762C>T
ENST00000682162.1:c.288C>T ENSP00000508203.1:n.288C>T
ENST00000682567.1:n.336C>T
ENST00000683521.1:c.259C>T ENSP00000506864.1:p.Arg87Cys
ENST00000684483.1:c.259C>T ENSP00000507894.1:p.Arg87Cys
ENST00000366560.4:c.259C>T MANE Select ENSP00000355518.4:p.Arg87Cys
ENST00000366560.3:c.259C>T ENSP00000355518.3:p.Arg87Cys
ENST00000493477.1:n.372C>T
NM_000143.3:c.259C>T , LRG_504t1:c.259C>T NP_000134.2:p.Arg87Cys
XM_011544132.1:c.31C>T XP_011542434.1:p.Arg11Cys
XM_011544132.2:c.31C>T XP_011542434.1:p.Arg11Cys
NM_000143.4:c.259C>T MANE Select NP_000134.2:p.Arg87Cys
Search 100 bp 5'
Search 100 bp 3'