Canonical Allele Identifier: CA114449
Gene: NAT2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.18400344T>C
GRCh37 chr8:g.18257854T>C
Revel Score:
ENST00000286479 (MANE Select) 0.098
gnomAD v2:
8:18257854 T / C
gnomAD v3:
8:18400344 T / C
gnomAD v4:
chr8-18400344-T-C
Joint Max Group AF 0.45064524 (NFE)
Genomes Max Group AF 0.44266248 (NFE)
Exomes Max Group AF 0.45090718 (NFE)
ClinVar RCV:
RCV000000759
RCV003974785
ClinVar Variation:
723
dbSNP:
1801280
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400344T>C , CM000670.2:g.18400344T>C GRCh38
NC_000008.10:g.18257854T>C , CM000670.1:g.18257854T>C GRCh37
NC_000008.9:g.18302134T>C NCBI36
NG_012246.1:g.14100T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.341T>C MANE Select ENSP00000286479.3:p.Ile114Thr
ENST00000286479.3:c.341T>C ENSP00000286479.3:p.Ile114Thr
ENST00000520116.1:c.-50T>C ENSP00000428416.1:n.-50T>C
NM_000015.2:c.341T>C NP_000006.2:p.Ile114Thr
XM_011544358.1:c.341T>C XP_011542660.1:p.Ile114Thr
XM_017012938.1:c.341T>C XP_016868427.1:p.Ile114Thr
NM_000015.3:c.341T>C MANE Select NP_000006.2:p.Ile114Thr
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