Canonical Allele Identifier: CA3933499
Gene: FBXL4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.98899353C>T
GRCh37 chr6:g.99347229C>T
Revel Score:
ENST00000369244 (MANE Select) 0.615
ENST00000229971 0.615
gnomAD v2:
6:99347229 C / T
gnomAD v3:
6:98899353 C / T
gnomAD v4:
chr6-98899353-C-T
Joint Max Group AF 0.00017688 (AFR)
Genomes Max Group AF 0.00026099 (AFR)
Exomes Max Group AF 0.00002375 (AFR)
ClinVar Allele:
431153
ClinVar RCV:
RCV000499421
RCV001591147
ClinVar Variation:
437475
dbSNP:
773850151
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98899353C>T , CM000668.2:g.98899353C>T GRCh38
NC_000006.11:g.99347229C>T , CM000668.1:g.99347229C>T GRCh37
NC_000006.10:g.99453950C>T NCBI36
NG_033903.1:g.53654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1232G>A MANE Select ENSP00000358247.1:p.Cys411Tyr
ENST00000229971.2:c.1232G>A ENSP00000229971.1:p.Cys411Tyr
ENST00000369244.6:c.1232G>A ENSP00000358247.1:p.Cys411Tyr
NM_001278716.1:c.1232G>A NP_001265645.1:p.Cys411Tyr
NM_012160.4:c.1232G>A NP_036292.2:p.Cys411Tyr
NR_103836.1:n.1277G>A
NR_103837.1:n.1277G>A
XM_005266930.1:c.1232G>A XP_005266987.1:p.Cys411Tyr
XM_005266930.3:c.1232G>A XP_005266987.1:p.Cys411Tyr
XM_017010726.1:c.1232G>A XP_016866215.1:p.Cys411Tyr
XM_017010727.2:c.1232G>A XP_016866216.1:p.Cys411Tyr
XM_017010728.1:c.506G>A XP_016866217.1:p.Cys169Tyr
NM_001278716.2:c.1232G>A MANE Select NP_001265645.1:p.Cys411Tyr
NR_103836.2:n.1217G>A
NR_103837.2:n.1217G>A
NM_012160.5:c.1232G>A NP_036292.2:p.Cys411Tyr
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