Canonical Allele Identifier: CA120022

Gene: NECTIN1

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

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