Canonical Allele Identifier: CA8313799
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs765189193
ExAC: 17:4802027 C / T
gnomAD v2: 17-4802027-C-T
gnomAD v3: 17-4898732-C-T
gnomAD v4: 17-4898732-C-T
MyVariant Identifiers: chr17:g.4802027C>T (hg19) chr17:g.4898732C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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