Canonical Allele Identifier: CA287177901
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs909556762
gnomAD v3: 17-4898106-CAG-C
gnomAD v4: 17-4898106-CAG-C
MyVariant Identifiers: chr17:g.4801402_4801403del (hg19) chr17:g.4898107_4898108del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898113_4898114del , CM000679.2:g.4898113_4898114del GRCh38
NC_000017.10:g.4801408_4801409del , CM000679.1:g.4801408_4801409del GRCh37
NC_000017.9:g.4742187_4742188del NCBI36
NG_008029.2:g.9968_9969del
NG_028005.1:g.69774_69775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*628_*629del MANE Select ENSP00000497829.1:n.*628_*629del
ENST00000649830.1:c.*746_*747del ENSP00000496907.1:n.*746_*747del
ENST00000652550.1:n.1836_1837del
ENST00000293780.4:c.*628_*629del ENSP00000293780.4:n.*628_*629del
ENST00000572438.1:n.1796_1797del
NM_000080.3:c.*628_*629del NP_000071.1:n.*628_*629del
NM_000080.4:c.*628_*629del MANE Select NP_000071.1:n.*628_*629del
XM_017024115.1:c.*628_*629del XP_016879604.1:n.*628_*629del
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