Canonical Allele Identifier: CA6321842
Gene: NECTIN1 HGNC NCBI
gnomAD v2:
11:119535829 G / A
gnomAD v3:
11:119665119 G / A
gnomAD v4:
chr11-119665119-G-A
Joint Max Group AF 0.00006972 (NFE)
Genomes Max Group AF 0.00003251 (AFR)
Exomes Max Group AF 0.00006959 (NFE)
ClinVar RCV:
RCV001106160
RCV003106116
ClinVar Variation:
879024
dbSNP:
761931104
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119665119G>A , CM000673.2:g.119665119G>A GRCh38
NC_000011.9:g.119535829G>A , CM000673.1:g.119535829G>A GRCh37
NC_000011.8:g.119041039G>A NCBI36
NG_013083.1:g.68607C>T
NG_013083.2:g.68607C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531468.2:c.1003+10040C>T ENSP00000513010.1:n.1003+10040C>T
ENST00000264025.8:c.1182C>T MANE Select ENSP00000264025.3:p.His394=
ENST00000264025.7:c.1182C>T ENSP00000264025.3:p.His394=
ENST00000341398.6:c.1003+10040C>T ENSP00000344974.2:n.1003+10040C>T
NM_002855.4:c.1182C>T NP_002846.3:p.His394=
NM_203285.1:c.1003+10040C>T NP_976030.1:n.1003+10040C>T
NM_002855.5:c.1182C>T MANE Select NP_002846.3:p.His394=
NM_203285.2:c.1003+10040C>T NP_976030.1:n.1003+10040C>T
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