Canonical Allele Identifier: CA2635577376
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898679-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898679A>C , CM000679.2:g.4898679A>C GRCh38
NC_000017.10:g.4801974A>C , CM000679.1:g.4801974A>C GRCh37
NC_000017.9:g.4742753A>C NCBI36
NG_008029.2:g.9397T>G
NG_028005.1:g.70340A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*57T>G MANE Select ENSP00000497829.1:n.*57T>G
ENST00000649830.1:c.*175T>G ENSP00000496907.1:n.*175T>G
ENST00000652550.1:n.1265T>G
ENST00000293780.4:c.*57T>G ENSP00000293780.4:n.*57T>G
ENST00000572438.1:n.1225T>G
NM_000080.3:c.*57T>G NP_000071.1:n.*57T>G
NM_000080.4:c.*57T>G MANE Select NP_000071.1:n.*57T>G
XM_017024115.1:c.*57T>G XP_016879604.1:n.*57T>G
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