Canonical Allele Identifier: CA323206
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241504102G>A
GRCh37 chr1:g.241667402G>A
Revel Score:
ENST00000366560 (MANE Select) 0.861
gnomAD v2:
1:241667402 G / A
gnomAD v3:
1:241504102 G / A
gnomAD v4:
chr1-241504102-G-A
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001583 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504102G>A , CM000663.2:g.241504102G>A GRCh38
NC_000001.10:g.241667402G>A , CM000663.1:g.241667402G>A GRCh37
NC_000001.9:g.239734025G>A NCBI36
NG_012338.1:g.20653C>T , LRG_504:g.20653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1551C>T
ENST00000682162.1:c.1077C>T ENSP00000508203.1:n.1077C>T
ENST00000682567.1:n.1125C>T
ENST00000683521.1:c.1048C>T ENSP00000506864.1:p.Arg350Trp
ENST00000684161.1:n.2263C>T
ENST00000684483.1:c.*444C>T ENSP00000507894.1:n.*444C>T
ENST00000366560.4:c.1048C>T MANE Select ENSP00000355518.4:p.Arg350Trp
ENST00000366560.3:c.1048C>T ENSP00000355518.3:p.Arg350Trp
NM_000143.3:c.1048C>T , LRG_504t1:c.1048C>T NP_000134.2:p.Arg350Trp
XM_011544132.1:c.820C>T XP_011542434.1:p.Arg274Trp
XM_011544132.2:c.820C>T XP_011542434.1:p.Arg274Trp
NM_000143.4:c.1048C>T MANE Select NP_000134.2:p.Arg350Trp
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