Canonical Allele Identifier: CA2635576171
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898155-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898155C>T , CM000679.2:g.4898155C>T GRCh38
NC_000017.10:g.4801450C>T , CM000679.1:g.4801450C>T GRCh37
NC_000017.9:g.4742229C>T NCBI36
NG_008029.2:g.9921G>A
NG_028005.1:g.69816C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*581G>A MANE Select ENSP00000497829.1:n.*581G>A
ENST00000649830.1:c.*699G>A ENSP00000496907.1:n.*699G>A
ENST00000652550.1:n.1789G>A
ENST00000293780.4:c.*581G>A ENSP00000293780.4:n.*581G>A
ENST00000572438.1:n.1749G>A
NM_000080.3:c.*581G>A NP_000071.1:n.*581G>A
NM_000080.4:c.*581G>A MANE Select NP_000071.1:n.*581G>A
XM_017024115.1:c.*581G>A XP_016879604.1:n.*581G>A
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