Canonical Allele Identifier: CA2635577195
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898594-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898594G>C , CM000679.2:g.4898594G>C GRCh38
NC_000017.10:g.4801889G>C , CM000679.1:g.4801889G>C GRCh37
NC_000017.9:g.4742668G>C NCBI36
NG_008029.2:g.9482C>G
NG_028005.1:g.70255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*142C>G MANE Select ENSP00000497829.1:n.*142C>G
ENST00000649830.1:c.*260C>G ENSP00000496907.1:n.*260C>G
ENST00000652550.1:n.1350C>G
ENST00000293780.4:c.*142C>G ENSP00000293780.4:n.*142C>G
ENST00000572438.1:n.1310C>G
NM_000080.3:c.*142C>G NP_000071.1:n.*142C>G
NM_000080.4:c.*142C>G MANE Select NP_000071.1:n.*142C>G
XM_017024115.1:c.*142C>G XP_016879604.1:n.*142C>G
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