Canonical Allele Identifier: CA8313802
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs767497740
ExAC: 17:4802029 A / C
gnomAD v2: 17-4802029-A-C
gnomAD v4: 17-4898734-A-C
MyVariant Identifiers: chr17:g.4802029A>C (hg19) chr17:g.4898734A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898734A>C , CM000679.2:g.4898734A>C GRCh38
NC_000017.10:g.4802029A>C , CM000679.1:g.4802029A>C GRCh37
NC_000017.9:g.4742808A>C NCBI36
NG_008029.2:g.9342T>G
NG_028005.1:g.70395A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*2T>G MANE Select ENSP00000497829.1:n.*2T>G
ENST00000649830.1:c.*120T>G ENSP00000496907.1:n.*120T>G
ENST00000652550.1:n.1210T>G
ENST00000293780.4:c.*2T>G ENSP00000293780.4:n.*2T>G
ENST00000572438.1:n.1170T>G
NM_000080.3:c.*2T>G NP_000071.1:n.*2T>G
NM_000080.4:c.*2T>G MANE Select NP_000071.1:n.*2T>G
XM_017024115.1:c.*2T>G XP_016879604.1:n.*2T>G
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