Canonical Allele Identifier: CA8313804
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs755963482
ExAC: 17:4802039 G / A
gnomAD v2: 17-4802039-G-A
gnomAD v4: 17-4898744-G-A
MyVariant Identifiers: chr17:g.4802039G>A (hg19) chr17:g.4898744G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898744G>A , CM000679.2:g.4898744G>A GRCh38
NC_000017.10:g.4802039G>A , CM000679.1:g.4802039G>A GRCh37
NC_000017.9:g.4742818G>A NCBI36
NG_008029.2:g.9332C>T
NG_028005.1:g.70405G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1474C>T MANE Select ENSP00000497829.1:p.Gln492Ter
ENST00000649830.1:c.*110C>T ENSP00000496907.1:n.*110C>T
ENST00000652550.1:n.1200C>T
ENST00000293780.4:c.1474C>T ENSP00000293780.4:p.Gln492Ter
ENST00000572438.1:n.1160C>T
NM_000080.3:c.1474C>T NP_000071.1:p.Gln492Ter
NM_000080.4:c.1474C>T MANE Select NP_000071.1:p.Gln492Ter
XM_017024115.1:c.1438C>T XP_016879604.1:p.Gln480Ter
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