Canonical Allele Identifier: CA229399950
Gene: NECTIN1 HGNC NCBI
gnomAD v2:
11:119599409 T / G
gnomAD v3:
11:119728699 T / G
gnomAD v4:
chr11-119728699-T-G
Joint Max Group AF 0.05215036 (SAS)
Genomes Max Group AF 0.00514545 (NFE)
Exomes Max Group AF 0.15951165 (EAS)
ClinVar RCV:
RCV001105121
ClinVar Variation:
878495
dbSNP:
1040977053
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119728699T>G , CM000673.2:g.119728699T>G GRCh38
NC_000011.9:g.119599409T>G , CM000673.1:g.119599409T>G GRCh37
NC_000011.8:g.119104619T>G NCBI36
NG_013083.1:g.5027A>C
NG_013083.2:g.5027A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264025.8:c.-146A>C MANE Select ENSP00000264025.3:n.-146A>C
ENST00000264025.7:c.-146A>C ENSP00000264025.3:n.-146A>C
NM_002855.4:c.-146A>C NP_002846.3:n.-146A>C
NM_203285.1:c.-146A>C NP_976030.1:n.-146A>C
NM_203286.1:c.-146A>C NP_976031.1:n.-146A>C
NM_002855.5:c.-146A>C MANE Select NP_002846.3:n.-146A>C
NM_203285.2:c.-146A>C NP_976030.1:n.-146A>C
NM_203286.2:c.-146A>C NP_976031.1:n.-146A>C
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