Canonical Allele Identifier: CA8313806
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 949973
ClinVar RCV Id: RCV001221576 RCV001828766
dbSNP Id: rs753512613
ExAC: 17:4802042 T / C
gnomAD v2: 17-4802042-T-C
gnomAD v3: 17-4898747-T-C
gnomAD v4: 17-4898747-T-C
MyVariant Identifiers: chr17:g.4802042T>C (hg19) chr17:g.4898747T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898747T>C , CM000679.2:g.4898747T>C GRCh38
NC_000017.10:g.4802042T>C , CM000679.1:g.4802042T>C GRCh37
NC_000017.9:g.4742821T>C NCBI36
NG_008029.2:g.9329A>G
NG_028005.1:g.70408T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1471A>G MANE Select ENSP00000497829.1:p.Ile491Val
ENST00000649830.1:c.*107A>G ENSP00000496907.1:n.*107A>G
ENST00000652550.1:n.1197A>G
ENST00000293780.4:c.1471A>G ENSP00000293780.4:p.Ile491Val
ENST00000572438.1:n.1157A>G
NM_000080.3:c.1471A>G NP_000071.1:p.Ile491Val
NM_000080.4:c.1471A>G MANE Select NP_000071.1:p.Ile491Val
XM_017024115.1:c.1435A>G XP_016879604.1:p.Ile479Val
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