Canonical Allele Identifier: CA602186508
Gene: NECTIN1 HGNC NCBI
gnomAD v2:
11:119532575 C / T
gnomAD v3:
11:119661865 C / T
gnomAD v4:
chr11-119661865-C-T
Joint Max Group AF 0.00003834 (SAS)
Genomes Max Group AF 0.00007341 (SAS)
Exomes Max Group AF 0.0000189 (NFE)
ClinVar RCV:
RCV001108117
ClinVar Variation:
880103
dbSNP:
1200712188
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119661865C>T , CM000673.2:g.119661865C>T GRCh38
NC_000011.9:g.119532575C>T , CM000673.1:g.119532575C>T GRCh37
NC_000011.8:g.119037785C>T NCBI36
NG_013083.1:g.71861G>A
NG_013083.2:g.71861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531468.2:c.1003+13294G>A ENSP00000513010.1:n.1003+13294G>A
ENST00000264025.8:c.*2882G>A MANE Select ENSP00000264025.3:n.*2882G>A
ENST00000264025.7:c.*2882G>A ENSP00000264025.3:n.*2882G>A
ENST00000341398.6:c.1003+13294G>A ENSP00000344974.2:n.1003+13294G>A
NM_002855.4:c.*2882G>A NP_002846.3:n.*2882G>A
NM_203285.1:c.1003+13294G>A NP_976030.1:n.1003+13294G>A
NM_002855.5:c.*2882G>A MANE Select NP_002846.3:n.*2882G>A
NM_203285.2:c.1003+13294G>A NP_976030.1:n.1003+13294G>A
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