Canonical Allele Identifier: CA5823488
Gene: NAP1L4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2976031T>C
GRCh37 chr11:g.2997261T>C
Revel Score:
ENST00000399624 0.074
ENST00000380542 (MANE Select) 0.074
ENST00000526115 0.074
ENST00000532325 0.074
ENST00000448187 0.074
ENST00000399614 0.074
ENST00000430811 0.074
ENST00000529361 0.074
ENST00000528968 0.074
ENST00000530064 0.074
ENST00000526842 0.074
ENST00000531291 0.074
ENST00000455338 0.074
ENST00000534372 0.074
gnomAD v2:
11:2997261 T / C
gnomAD v3:
11:2976031 T / C
gnomAD v4:
chr11-2976031-T-C
Joint Max Group AF 0.00002875 (SAS)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00003009 (SAS)
ClinVar Allele:
2310934
ClinVar RCV:
RCV004163970
ClinVar Variation:
2318573
dbSNP:
778280720
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2976031T>C , CM000673.2:g.2976031T>C GRCh38
NC_000011.9:g.2997261T>C , CM000673.1:g.2997261T>C GRCh37
NC_000011.8:g.2953837T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000448187.6:c.166A>G ENSP00000387783.2:p.Ile56Val
ENST00000703798.1:c.166A>G ENSP00000515483.1:p.Ile56Val
ENST00000380542.9:c.166A>G MANE Select ENSP00000369915.4:p.Ile56Val
ENST00000380542.8:c.166A>G ENSP00000369915.4:p.Ile56Val
ENST00000399614.6:c.73A>G ENSP00000382523.2:p.Ile25Val
ENST00000430811.5:c.166A>G ENSP00000405912.1:p.Ile56Val
ENST00000448187.5:c.166A>G ENSP00000387783.1:p.Ile56Val
ENST00000455338.6:c.166A>G ENSP00000412048.2:p.Ile56Val
ENST00000526115.5:c.166A>G ENSP00000436397.1:p.Ile56Val
ENST00000526842.5:c.166A>G ENSP00000431799.1:p.Ile56Val
ENST00000528968.5:c.166A>G ENSP00000434759.1:p.Ile56Val
ENST00000529361.5:c.166A>G ENSP00000435327.1:p.Ile56Val
ENST00000530064.5:c.166A>G ENSP00000432126.1:p.Ile56Val
ENST00000531291.5:c.166A>G ENSP00000437130.1:p.Ile56Val
ENST00000532325.6:c.166A>G ENSP00000436488.2:p.Ile56Val
ENST00000534372.1:c.166A>G ENSP00000433512.1:p.Ile56Val
ENST00000620138.4:c.166A>G ENSP00000481412.1:p.Ile56Val
NM_005969.3:c.166A>G NP_005960.1:p.Ile56Val
NM_005969.4:c.166A>G MANE Select NP_005960.1:p.Ile56Val
NM_001369375.1:c.166A>G NP_001356304.1:p.Ile56Val
NM_001369376.1:c.166A>G NP_001356305.1:p.Ile56Val
NM_001369377.1:c.166A>G NP_001356306.1:p.Ile56Val
NM_001369378.1:c.166A>G NP_001356307.1:p.Ile56Val
NM_001369379.1:c.166A>G NP_001356308.1:p.Ile56Val
NM_001369380.1:c.166A>G NP_001356309.1:p.Ile56Val
NM_001369381.1:c.166A>G NP_001356310.1:p.Ile56Val
NM_001369382.1:c.166A>G NP_001356311.1:p.Ile56Val
NM_001369383.1:c.166A>G NP_001356312.1:p.Ile56Val
NM_001369384.1:c.166A>G NP_001356313.1:p.Ile56Val
NM_001369385.1:c.166A>G NP_001356314.1:p.Ile56Val
NM_001369386.1:c.166A>G NP_001356315.1:p.Ile56Val
NM_001369388.1:c.166A>G NP_001356317.1:p.Ile56Val
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