Canonical Allele Identifier: CA229719138
Gene: NECTIN1 HGNC NCBI
gnomAD v2:
11:119532321 C / T
gnomAD v3:
11:119661611 C / T
gnomAD v4:
chr11-119661611-C-T
Joint Max Group AF 0.03858937 (EAS)
Genomes Max Group AF 0.04047532 (EAS)
Exomes Max Group AF 0.0325619 (EAS)
ClinVar RCV:
RCV001108110
ClinVar Variation:
880096
dbSNP:
76084281
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119661611C>T , CM000673.2:g.119661611C>T GRCh38
NC_000011.9:g.119532321C>T , CM000673.1:g.119532321C>T GRCh37
NC_000011.8:g.119037531C>T NCBI36
NG_013083.1:g.72115G>A
NG_013083.2:g.72115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531468.2:c.1003+13548G>A ENSP00000513010.1:n.1003+13548G>A
ENST00000264025.8:c.*3136G>A MANE Select ENSP00000264025.3:n.*3136G>A
ENST00000264025.7:c.*3136G>A ENSP00000264025.3:n.*3136G>A
ENST00000341398.6:c.1003+13548G>A ENSP00000344974.2:n.1003+13548G>A
NM_002855.4:c.*3136G>A NP_002846.3:n.*3136G>A
NM_203285.1:c.1003+13548G>A NP_976030.1:n.1003+13548G>A
NM_002855.5:c.*3136G>A MANE Select NP_002846.3:n.*3136G>A
NM_203285.2:c.1003+13548G>A NP_976030.1:n.1003+13548G>A
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