Canonical Allele Identifier: CA10650453
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 323962
ClinVar RCV Id: RCV000293251
dbSNP Id: rs886053118
gnomAD v3: 17-4898139-C-T
gnomAD v4: 17-4898139-C-T
MyVariant Identifiers: chr17:g.4801434C>T (hg19) chr17:g.4898139C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898139C>T , CM000679.2:g.4898139C>T GRCh38
NC_000017.10:g.4801434C>T , CM000679.1:g.4801434C>T GRCh37
NC_000017.9:g.4742213C>T NCBI36
NG_008029.2:g.9937G>A
NG_028005.1:g.69800C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*597G>A MANE Select ENSP00000497829.1:n.*597G>A
ENST00000649830.1:c.*715G>A ENSP00000496907.1:n.*715G>A
ENST00000652550.1:n.1805G>A
ENST00000293780.4:c.*597G>A ENSP00000293780.4:n.*597G>A
ENST00000572438.1:n.1765G>A
NM_000080.3:c.*597G>A NP_000071.1:n.*597G>A
NM_000080.4:c.*597G>A MANE Select NP_000071.1:n.*597G>A
XM_017024115.1:c.*597G>A XP_016879604.1:n.*597G>A
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