Canonical Allele Identifier: CA2635577204
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898599-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898599C>G , CM000679.2:g.4898599C>G GRCh38
NC_000017.10:g.4801894C>G , CM000679.1:g.4801894C>G GRCh37
NC_000017.9:g.4742673C>G NCBI36
NG_008029.2:g.9477G>C
NG_028005.1:g.70260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*137G>C MANE Select ENSP00000497829.1:n.*137G>C
ENST00000649830.1:c.*255G>C ENSP00000496907.1:n.*255G>C
ENST00000652550.1:n.1345G>C
ENST00000293780.4:c.*137G>C ENSP00000293780.4:n.*137G>C
ENST00000572438.1:n.1305G>C
NM_000080.3:c.*137G>C NP_000071.1:n.*137G>C
NM_000080.4:c.*137G>C MANE Select NP_000071.1:n.*137G>C
XM_017024115.1:c.*137G>C XP_016879604.1:n.*137G>C
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