Canonical Allele Identifier: CA1478652
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241508789T>C
GRCh37 chr1:g.241672089T>C
gnomAD v2:
1:241672089 T / C
gnomAD v3:
1:241508789 T / C
gnomAD v4:
chr1-241508789-T-C
Joint Max Group AF 0.00020594 (EAS)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00023303 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508789T>C , CM000663.2:g.241508789T>C GRCh38
NC_000001.10:g.241672089T>C , CM000663.1:g.241672089T>C GRCh37
NC_000001.9:g.239738712T>C NCBI36
NG_012338.1:g.15966A>G , LRG_504:g.15966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-4A>G
ENST00000682162.1:c.585-4A>G ENSP00000508203.1:n.585-4A>G
ENST00000682567.1:n.633-4A>G
ENST00000683521.1:c.556-4A>G ENSP00000506864.1:n.556-4A>G
ENST00000684161.1:n.1767A>G
ENST00000684483.1:c.556-29A>G ENSP00000507894.1:n.556-29A>G
ENST00000366560.4:c.556-4A>G MANE Select ENSP00000355518.4:n.556-4A>G
ENST00000366560.3:c.556-4A>G ENSP00000355518.3:n.556-4A>G
NM_000143.3:c.556-4A>G , LRG_504t1:c.556-4A>G NP_000134.2:n.556-4A>G
XM_011544132.1:c.328-4A>G XP_011542434.1:n.328-4A>G
XM_011544132.2:c.328-4A>G XP_011542434.1:n.328-4A>G
NM_000143.4:c.556-4A>G MANE Select NP_000134.2:n.556-4A>G
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