Canonical Allele Identifier: CA8313794
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs772645368
ExAC: 17:4802009 G / A
gnomAD v2: 17-4802009-G-A
gnomAD v3: 17-4898714-G-A
gnomAD v4: 17-4898714-G-A
MyVariant Identifiers: chr17:g.4802009G>A (hg19) chr17:g.4898714G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898714G>A , CM000679.2:g.4898714G>A GRCh38
NC_000017.10:g.4802009G>A , CM000679.1:g.4802009G>A GRCh37
NC_000017.9:g.4742788G>A NCBI36
NG_008029.2:g.9362C>T
NG_028005.1:g.70375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*22C>T MANE Select ENSP00000497829.1:n.*22C>T
ENST00000649830.1:c.*140C>T ENSP00000496907.1:n.*140C>T
ENST00000652550.1:n.1230C>T
ENST00000293780.4:c.*22C>T ENSP00000293780.4:n.*22C>T
ENST00000572438.1:n.1190C>T
NM_000080.3:c.*22C>T NP_000071.1:n.*22C>T
NM_000080.4:c.*22C>T MANE Select NP_000071.1:n.*22C>T
XM_017024115.1:c.*22C>T XP_016879604.1:n.*22C>T
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