Canonical Allele Identifier: CA8973261
Gene: FECH HGNC NCBI
COSMIC:
COSM4986149 (not active)
MyVariant.info:
GRCh38 chr18:g.57573273C>T
GRCh37 chr18:g.55240505C>T
Revel Score:
ENST00000262093 (MANE Select) 0.310
ENST00000382873 0.310
gnomAD v2:
18:55240505 C / T
gnomAD v3:
18:57573273 C / T
gnomAD v4:
chr18-57573273-C-T
Joint Max Group AF 0.15648679 (NFE)
Genomes Max Group AF 0.15162935 (NFE)
Exomes Max Group AF 0.15665087 (NFE)
ClinVar Allele:
331897
ClinVar RCV:
RCV000285620
RCV001521397
ClinVar Variation:
327434
dbSNP:
1041951
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57573273C>T , CM000680.2:g.57573273C>T GRCh38
NC_000018.9:g.55240505C>T , CM000680.1:g.55240505C>T GRCh37
NC_000018.8:g.53391503C>T NCBI36
NG_008175.1:g.18465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592699.6:c.287G>A ENSP00000466263.1:p.Arg96Gln
ENST00000682485.1:n.399G>A
ENST00000262093.11:c.287G>A MANE Select ENSP00000262093.6:p.Arg96Gln
ENST00000382873.8:c.71G>A ENSP00000372326.4:p.Arg24Gln
ENST00000651787.1:n.393G>A
ENST00000652755.1:c.305G>A ENSP00000498358.1:p.Arg102Gln
ENST00000262093.9:c.287G>A ENSP00000262093.5:p.Arg96Gln
ENST00000382873.7:c.305G>A ENSP00000372326.3:p.Arg102Gln
ENST00000585494.5:c.287G>A ENSP00000465243.1:p.Arg96Gln
ENST00000585699.1:n.239G>A
ENST00000585747.1:c.287G>A ENSP00000465717.1:p.Arg96Gln
ENST00000585878.1:n.339G>A
ENST00000591215.5:c.71G>A ENSP00000467461.1:p.Arg24Gln
ENST00000592111.1:n.288G>A
ENST00000592699.5:c.287G>A ENSP00000466263.1:p.Arg96Gln
NM_000140.3:c.287G>A NP_000131.2:p.Arg96Gln
NM_001012515.2:c.305G>A NP_001012533.1:p.Arg102Gln
XM_011525881.1:c.305G>A XP_011524183.1:p.Arg102Gln
XM_011525882.1:c.71G>A XP_011524184.1:p.Arg24Gln
NM_000140.4:c.287G>A NP_000131.2:p.Arg96Gln
NM_001012515.3:c.305G>A NP_001012533.1:p.Arg102Gln
XM_011525882.2:c.71G>A XP_011524184.1:p.Arg24Gln
XM_017025614.2:c.287G>A XP_016881103.1:p.Arg96Gln
NM_000140.5:c.287G>A MANE Select NP_000131.2:p.Arg96Gln
NM_001012515.4:c.305G>A NP_001012533.1:p.Arg102Gln
NM_001371094.1:c.287G>A NP_001358023.1:p.Arg96Gln
NM_001371095.1:c.71G>A NP_001358024.1:p.Arg24Gln
NM_001374778.1:c.287G>A NP_001361707.1:p.Arg96Gln
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