Canonical Allele Identifier: CA1478750
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241517256C>T
GRCh37 chr1:g.241680556C>T
Revel Score:
ENST00000366560 (MANE Select) 0.604
gnomAD v2:
1:241680556 C / T
gnomAD v3:
1:241517256 C / T
gnomAD v4:
chr1-241517256-C-T
Joint Max Group AF 0.0004239 (EAS)
Genomes Max Group AF 0.00006823 (EAS)
Exomes Max Group AF 0.0004372 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517256C>T , CM000663.2:g.241517256C>T GRCh38
NC_000001.10:g.241680556C>T , CM000663.1:g.241680556C>T GRCh37
NC_000001.9:g.239747179C>T NCBI36
NG_012338.1:g.7499G>A , LRG_504:g.7499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.696G>A
ENST00000682162.1:c.222G>A ENSP00000508203.1:n.222G>A
ENST00000682567.1:n.270G>A
ENST00000683521.1:c.193G>A ENSP00000506864.1:p.Asp65Asn
ENST00000684483.1:c.193G>A ENSP00000507894.1:p.Asp65Asn
ENST00000366560.4:c.193G>A MANE Select ENSP00000355518.4:p.Asp65Asn
ENST00000366560.3:c.193G>A ENSP00000355518.3:p.Asp65Asn
ENST00000493477.1:n.306G>A
NM_000143.3:c.193G>A , LRG_504t1:c.193G>A NP_000134.2:p.Asp65Asn
XM_011544132.1:c.-36G>A XP_011542434.1:n.-36G>A
XM_011544132.2:c.-36G>A XP_011542434.1:n.-36G>A
NM_000143.4:c.193G>A MANE Select NP_000134.2:p.Asp65Asn
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