Canonical Allele Identifier: CA8313818
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2235658
ClinVar RCV Id: RCV002713247 RCV003143539
dbSNP Id: rs528584911
ExAC: 17:4802071 C / A
gnomAD v2: 17-4802071-C-A
gnomAD v3: 17-4898776-C-A
gnomAD v4: 17-4898776-C-A
MyVariant Identifiers: chr17:g.4802071C>A (hg19) chr17:g.4898776C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898776C>A , CM000679.2:g.4898776C>A GRCh38
NC_000017.10:g.4802071C>A , CM000679.1:g.4802071C>A GRCh37
NC_000017.9:g.4742850C>A NCBI36
NG_008029.2:g.9300G>T
NG_028005.1:g.70437C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1442G>T MANE Select ENSP00000497829.1:p.Arg481Leu
ENST00000649830.1:c.*78G>T ENSP00000496907.1:n.*78G>T
ENST00000652550.1:n.1168G>T
ENST00000293780.4:c.1442G>T ENSP00000293780.4:p.Arg481Leu
ENST00000572438.1:n.1128G>T
NM_000080.3:c.1442G>T NP_000071.1:p.Arg481Leu
NM_000080.4:c.1442G>T MANE Select NP_000071.1:p.Arg481Leu
XM_017024115.1:c.1406G>T XP_016879604.1:p.Arg469Leu
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