Canonical Allele Identifier: CA16603595
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241504227G>C
GRCh37 chr1:g.241667527G>C
Revel Score:
ENST00000366560 (MANE Select) 0.946
gnomAD v3:
1:241504227 G / C
gnomAD v4:
chr1-241504227-G-C
Joint Max Group AF 0.00001994 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar RCV:
RCV000430394
RCV001019060
ClinVar Variation:
392178
dbSNP:
1057524385
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504227G>C , CM000663.2:g.241504227G>C GRCh38
NC_000001.10:g.241667527G>C , CM000663.1:g.241667527G>C GRCh37
NC_000001.9:g.239734150G>C NCBI36
NG_012338.1:g.20528C>G , LRG_504:g.20528C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1426C>G
ENST00000682162.1:c.952C>G ENSP00000508203.1:n.952C>G
ENST00000682567.1:n.1000C>G
ENST00000683521.1:c.923C>G ENSP00000506864.1:p.Ala308Gly
ENST00000684161.1:n.2138C>G
ENST00000684483.1:c.*319C>G ENSP00000507894.1:n.*319C>G
ENST00000366560.4:c.923C>G MANE Select ENSP00000355518.4:p.Ala308Gly
ENST00000366560.3:c.923C>G ENSP00000355518.3:p.Ala308Gly
NM_000143.3:c.923C>G , LRG_504t1:c.923C>G NP_000134.2:p.Ala308Gly
XM_011544132.1:c.695C>G XP_011542434.1:p.Ala232Gly
XM_011544132.2:c.695C>G XP_011542434.1:p.Ala232Gly
NM_000143.4:c.923C>G MANE Select NP_000134.2:p.Ala308Gly
Search 100 bp 5'
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