Canonical Allele Identifier: CA120022
Gene: NECTIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8969
ClinVar RCV Id: RCV000009531 RCV000009532
dbSNP Id: rs104894281
gnomAD v4: 11-119677734-C-T
MyVariant Identifiers: chr11:g.119548444C>T (hg19) chr11:g.119677734C>T (hg38)
PubMed: PMID:10932188 PMID:11559849
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119677734C>T , CM000673.2:g.119677734C>T GRCh38
NC_000011.9:g.119548444C>T , CM000673.1:g.119548444C>T GRCh37
NC_000011.8:g.119053654C>T NCBI36
NG_013083.1:g.55992G>A
NG_013083.2:g.55992G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531468.2:c.554G>A ENSP00000513010.1:p.Trp185Ter
ENST00000264025.8:c.554G>A MANE Select ENSP00000264025.3:p.Trp185Ter
ENST00000264025.7:c.554G>A ENSP00000264025.3:p.Trp185Ter
ENST00000340882.2:c.554G>A ENSP00000345289.2:p.Trp185Ter
ENST00000341398.6:c.554G>A ENSP00000344974.2:p.Trp185Ter
ENST00000524510.1:n.528G>A
NM_002855.4:c.554G>A NP_002846.3:p.Trp185Ter
NM_203285.1:c.554G>A NP_976030.1:p.Trp185Ter
NM_203286.1:c.554G>A NP_976031.1:p.Trp185Ter
NM_002855.5:c.554G>A MANE Select NP_002846.3:p.Trp185Ter
NM_203285.2:c.554G>A NP_976030.1:p.Trp185Ter
NM_203286.2:c.554G>A NP_976031.1:p.Trp185Ter
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