Canonical Allele Identifier: CA4700442
Gene: DCTN6 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.30180584T>C
GRCh37 chr8:g.30038100T>C
Revel Score:
ENST00000221114 (MANE Select) 0.504
ENST00000520829 0.504
gnomAD v2:
8:30038100 T / C
gnomAD v3:
8:30180584 T / C
gnomAD v4:
chr8-30180584-T-C
Joint Max Group AF 0.00010959 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00011099 (NFE)
ClinVar RCV:
RCV004203510
ClinVar Variation:
2361539
dbSNP:
201711321
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30180584T>C , CM000670.2:g.30180584T>C GRCh38
NC_000008.10:g.30038100T>C , CM000670.1:g.30038100T>C GRCh37
NC_000008.9:g.30157642T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221114.8:c.428T>C MANE Select ENSP00000221114.3:p.Ile143Thr
ENST00000221114.7:c.428T>C ENSP00000221114.3:p.Ile143Thr
ENST00000520829.5:c.428T>C ENSP00000431017.1:p.Ile143Thr
ENST00000522141.5:c.*181T>C ENSP00000430109.1:n.*181T>C
ENST00000523666.5:c.*117T>C ENSP00000427955.1:n.*117T>C
NM_006571.3:c.428T>C NP_006562.1:p.Ile143Thr
NM_006571.4:c.428T>C MANE Select NP_006562.1:p.Ile143Thr
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