Canonical Allele Identifier: CA397297339
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs528584911
gnomAD v4: 17-4898776-C-G
MyVariant Identifiers: chr17:g.4802071C>G (hg19) chr17:g.4898776C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1442G>C MANE Select ENSP00000497829.1:p.Arg481Pro
ENST00000649830.1:c.*78G>C ENSP00000496907.1:n.*78G>C
ENST00000652550.1:n.1168G>C
ENST00000293780.4:c.1442G>C ENSP00000293780.4:p.Arg481Pro
ENST00000572438.1:n.1128G>C
NM_000080.3:c.1442G>C NP_000071.1:p.Arg481Pro
NM_000080.4:c.1442G>C MANE Select NP_000071.1:p.Arg481Pro
XM_017024115.1:c.1406G>C XP_016879604.1:p.Arg469Pro
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