Canonical Allele Identifier: CA8313793
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs557192611
ExAC: 17:4802006 G / C
gnomAD v2: 17-4802006-G-C
gnomAD v3: 17-4898711-G-C
gnomAD v4: 17-4898711-G-C
MyVariant Identifiers: chr17:g.4802006G>C (hg19) chr17:g.4898711G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898711G>C , CM000679.2:g.4898711G>C GRCh38
NC_000017.10:g.4802006G>C , CM000679.1:g.4802006G>C GRCh37
NC_000017.9:g.4742785G>C NCBI36
NG_008029.2:g.9365C>G
NG_028005.1:g.70372G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*25C>G MANE Select ENSP00000497829.1:n.*25C>G
ENST00000649830.1:c.*143C>G ENSP00000496907.1:n.*143C>G
ENST00000652550.1:n.1233C>G
ENST00000293780.4:c.*25C>G ENSP00000293780.4:n.*25C>G
ENST00000572438.1:n.1193C>G
NM_000080.3:c.*25C>G NP_000071.1:n.*25C>G
NM_000080.4:c.*25C>G MANE Select NP_000071.1:n.*25C>G
XM_017024115.1:c.*25C>G XP_016879604.1:n.*25C>G
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