Canonical Allele Identifier: CA287178787
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1601847
ClinVar RCV Id: RCV002127547
dbSNP Id: rs950225592
gnomAD v2: 17-4802046-C-T
gnomAD v3: 17-4898751-C-T
gnomAD v4: 17-4898751-C-T
MyVariant Identifiers: chr17:g.4802046C>T (hg19) chr17:g.4898751C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898751C>T , CM000679.2:g.4898751C>T GRCh38
NC_000017.10:g.4802046C>T , CM000679.1:g.4802046C>T GRCh37
NC_000017.9:g.4742825C>T NCBI36
NG_008029.2:g.9325G>A
NG_028005.1:g.70412C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1467G>A MANE Select ENSP00000497829.1:p.Pro489=
ENST00000649830.1:c.*103G>A ENSP00000496907.1:n.*103G>A
ENST00000652550.1:n.1193G>A
ENST00000293780.4:c.1467G>A ENSP00000293780.4:p.Pro489=
ENST00000572438.1:n.1153G>A
NM_000080.3:c.1467G>A NP_000071.1:p.Pro489=
NM_000080.4:c.1467G>A MANE Select NP_000071.1:p.Pro489=
XM_017024115.1:c.1431G>A XP_016879604.1:p.Pro477=
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