Canonical Allele Identifier: CA321905
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241517255T>C
GRCh37 chr1:g.241680555T>C
Revel Score:
ENST00000366560 (MANE Select) 0.929
gnomAD v2:
1:241680555 T / C
gnomAD v3:
1:241517255 T / C
gnomAD v4:
chr1-241517255-T-C
Joint Max Group AF 0.00006475 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006696 (NFE)
ClinVar Allele:
210704
ClinVar RCV:
RCV000197441
RCV000456662
RCV001013787
ClinVar Variation:
214390
dbSNP:
145116688
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517255T>C , CM000663.2:g.241517255T>C GRCh38
NC_000001.10:g.241680555T>C , CM000663.1:g.241680555T>C GRCh37
NC_000001.9:g.239747178T>C NCBI36
NG_012338.1:g.7500A>G , LRG_504:g.7500A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.697A>G
ENST00000682162.1:c.223A>G ENSP00000508203.1:n.223A>G
ENST00000682567.1:n.271A>G
ENST00000683521.1:c.194A>G ENSP00000506864.1:p.Asp65Gly
ENST00000684483.1:c.194A>G ENSP00000507894.1:p.Asp65Gly
ENST00000366560.4:c.194A>G MANE Select ENSP00000355518.4:p.Asp65Gly
ENST00000366560.3:c.194A>G ENSP00000355518.3:p.Asp65Gly
ENST00000493477.1:n.307A>G
NM_000143.3:c.194A>G , LRG_504t1:c.194A>G NP_000134.2:p.Asp65Gly
XM_011544132.1:c.-35A>G XP_011542434.1:n.-35A>G
XM_011544132.2:c.-35A>G XP_011542434.1:n.-35A>G
NM_000143.4:c.194A>G MANE Select NP_000134.2:p.Asp65Gly
Search 100 bp 5'
Search 100 bp 3'