Canonical Allele Identifier: CA287178867
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 797979
ClinVar RCV Id: RCV000981472
dbSNP Id: rs545473686
gnomAD v2: 17-4802082-G-A
gnomAD v3: 17-4898787-G-A
gnomAD v4: 17-4898787-G-A
MyVariant Identifiers: chr17:g.4802082G>A (hg19) chr17:g.4898787G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898787G>A , CM000679.2:g.4898787G>A GRCh38
NC_000017.10:g.4802082G>A , CM000679.1:g.4802082G>A GRCh37
NC_000017.9:g.4742861G>A NCBI36
NG_008029.2:g.9289C>T
NG_028005.1:g.70448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1431C>T MANE Select ENSP00000497829.1:p.Ala477=
ENST00000649830.1:c.*67C>T ENSP00000496907.1:n.*67C>T
ENST00000652550.1:n.1157C>T
ENST00000293780.4:c.1431C>T ENSP00000293780.4:p.Ala477=
ENST00000572438.1:n.1117C>T
NM_000080.3:c.1431C>T NP_000071.1:p.Ala477=
NM_000080.4:c.1431C>T MANE Select NP_000071.1:p.Ala477=
XM_017024115.1:c.1395C>T XP_016879604.1:p.Ala465=
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Search 100 bp 3'