Canonical Allele Identifier: CA8313800
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs765189193
ExAC: 17:4802027 C / A
gnomAD v2: 17-4802027-C-A
gnomAD v4: 17-4898732-C-A
MyVariant Identifiers: chr17:g.4802027C>A (hg19) chr17:g.4898732C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898732C>A , CM000679.2:g.4898732C>A GRCh38
NC_000017.10:g.4802027C>A , CM000679.1:g.4802027C>A GRCh37
NC_000017.9:g.4742806C>A NCBI36
NG_008029.2:g.9344G>T
NG_028005.1:g.70393C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*4G>T MANE Select ENSP00000497829.1:n.*4G>T
ENST00000649830.1:c.*122G>T ENSP00000496907.1:n.*122G>T
ENST00000652550.1:n.1212G>T
ENST00000293780.4:c.*4G>T ENSP00000293780.4:n.*4G>T
ENST00000572438.1:n.1172G>T
NM_000080.3:c.*4G>T NP_000071.1:n.*4G>T
NM_000080.4:c.*4G>T MANE Select NP_000071.1:n.*4G>T
XM_017024115.1:c.*4G>T XP_016879604.1:n.*4G>T
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