Canonical Allele Identifier: CA2244609913
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969779328
gnomAD v4: 17-4898158-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898158C>T , CM000679.2:g.4898158C>T GRCh38
NC_000017.10:g.4801453C>T , CM000679.1:g.4801453C>T GRCh37
NC_000017.9:g.4742232C>T NCBI36
NG_008029.2:g.9918G>A
NG_028005.1:g.69819C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*578G>A MANE Select ENSP00000497829.1:n.*578G>A
ENST00000649830.1:c.*696G>A ENSP00000496907.1:n.*696G>A
ENST00000652550.1:n.1786G>A
ENST00000293780.4:c.*578G>A ENSP00000293780.4:n.*578G>A
ENST00000572438.1:n.1746G>A
NM_000080.3:c.*578G>A NP_000071.1:n.*578G>A
NM_000080.4:c.*578G>A MANE Select NP_000071.1:n.*578G>A
XM_017024115.1:c.*578G>A XP_016879604.1:n.*578G>A
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