Canonical Allele Identifier: CA229720843
Gene: NECTIN1 HGNC NCBI
gnomAD v2:
11:119534278 G / C
gnomAD v3:
11:119663568 G / C
gnomAD v4:
chr11-119663568-G-C
Joint Max Group AF 0.02781018 (MID)
Genomes Max Group AF 0.02041804 (AFR)
Exomes Max Group AF 0.02514394 (MID)
ClinVar RCV:
RCV001102990
ClinVar Variation:
877353
dbSNP:
142206052
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119663568G>C , CM000673.2:g.119663568G>C GRCh38
NC_000011.9:g.119534278G>C , CM000673.1:g.119534278G>C GRCh37
NC_000011.8:g.119039488G>C NCBI36
NG_013083.1:g.70158C>G
NG_013083.2:g.70158C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531468.2:c.1003+11591C>G ENSP00000513010.1:n.1003+11591C>G
ENST00000264025.8:c.*1179C>G MANE Select ENSP00000264025.3:n.*1179C>G
ENST00000264025.7:c.*1179C>G ENSP00000264025.3:n.*1179C>G
ENST00000341398.6:c.1003+11591C>G ENSP00000344974.2:n.1003+11591C>G
NM_002855.4:c.*1179C>G NP_002846.3:n.*1179C>G
NM_203285.1:c.1003+11591C>G NP_976030.1:n.1003+11591C>G
NM_002855.5:c.*1179C>G MANE Select NP_002846.3:n.*1179C>G
NM_203285.2:c.1003+11591C>G NP_976030.1:n.1003+11591C>G
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