Canonical Allele Identifier: CA8313801
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs559273758
ExAC: 17:4802028 G / C
gnomAD v2: 17-4802028-G-C
gnomAD v3: 17-4898733-G-C
gnomAD v4: 17-4898733-G-C
MyVariant Identifiers: chr17:g.4802028G>C (hg19) chr17:g.4898733G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898733G>C , CM000679.2:g.4898733G>C GRCh38
NC_000017.10:g.4802028G>C , CM000679.1:g.4802028G>C GRCh37
NC_000017.9:g.4742807G>C NCBI36
NG_008029.2:g.9343C>G
NG_028005.1:g.70394G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*3C>G MANE Select ENSP00000497829.1:n.*3C>G
ENST00000649830.1:c.*121C>G ENSP00000496907.1:n.*121C>G
ENST00000652550.1:n.1211C>G
ENST00000293780.4:c.*3C>G ENSP00000293780.4:n.*3C>G
ENST00000572438.1:n.1171C>G
NM_000080.3:c.*3C>G NP_000071.1:n.*3C>G
NM_000080.4:c.*3C>G MANE Select NP_000071.1:n.*3C>G
XM_017024115.1:c.*3C>G XP_016879604.1:n.*3C>G
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