Canonical Allele Identifier: CA1478574
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241504239G>C
GRCh37 chr1:g.241667539G>C
Revel Score:
ENST00000366560 (MANE Select) 0.967
gnomAD v2:
1:241667539 G / C
gnomAD v3:
1:241504239 G / C
gnomAD v4:
chr1-241504239-G-C
Joint Max Group AF 0.00130903 (SAS)
Genomes Max Group AF 0.00082419 (SAS)
Exomes Max Group AF 0.0012964 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504239G>C , CM000663.2:g.241504239G>C GRCh38
NC_000001.10:g.241667539G>C , CM000663.1:g.241667539G>C GRCh37
NC_000001.9:g.239734162G>C NCBI36
NG_012338.1:g.20516C>G , LRG_504:g.20516C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1414C>G
ENST00000682162.1:c.940C>G ENSP00000508203.1:n.940C>G
ENST00000682567.1:n.988C>G
ENST00000683521.1:c.911C>G ENSP00000506864.1:p.Pro304Arg
ENST00000684161.1:n.2126C>G
ENST00000684483.1:c.*307C>G ENSP00000507894.1:n.*307C>G
ENST00000366560.4:c.911C>G MANE Select ENSP00000355518.4:p.Pro304Arg
ENST00000366560.3:c.911C>G ENSP00000355518.3:p.Pro304Arg
NM_000143.3:c.911C>G , LRG_504t1:c.911C>G NP_000134.2:p.Pro304Arg
XM_011544132.1:c.683C>G XP_011542434.1:p.Pro228Arg
XM_011544132.2:c.683C>G XP_011542434.1:p.Pro228Arg
NM_000143.4:c.911C>G MANE Select NP_000134.2:p.Pro304Arg
Search 100 bp 5'
Search 100 bp 3'