Canonical Allele Identifier: CA1164721
Gene: NES HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.156670364G>A
GRCh37 chr1:g.156640156G>A
Revel Score:
ENST00000368223 (MANE Select) 0.184
gnomAD v2:
1:156640156 G / A
gnomAD v3:
1:156670364 G / A
gnomAD v4:
chr1-156670364-G-A
Joint Max Group AF 0.80810998 (EAS)
Genomes Max Group AF 0.83983368 (EAS)
Exomes Max Group AF 0.80174439 (EAS)
ClinVar RCV:
RCV001637604
ClinVar Variation:
1238056
dbSNP:
3748570
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156670364G>A , CM000663.2:g.156670364G>A GRCh38
NC_000001.10:g.156640156G>A , CM000663.1:g.156640156G>A GRCh37
NC_000001.9:g.154906780G>A NCBI36
NG_012300.1:g.12034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368223.4:c.3824C>T MANE Select ENSP00000357206.3:p.Pro1275Leu
ENST00000368223.3:c.3824C>T ENSP00000357206.3:p.Pro1275Leu
NM_006617.1:c.3824C>T NP_006608.1:p.Pro1275Leu
NM_006617.2:c.3824C>T MANE Select NP_006608.1:p.Pro1275Leu
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