Canonical Allele Identifier: CA2635577438
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898732-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898732C>G , CM000679.2:g.4898732C>G GRCh38
NC_000017.10:g.4802027C>G , CM000679.1:g.4802027C>G GRCh37
NC_000017.9:g.4742806C>G NCBI36
NG_008029.2:g.9344G>C
NG_028005.1:g.70393C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*4G>C MANE Select ENSP00000497829.1:n.*4G>C
ENST00000649830.1:c.*122G>C ENSP00000496907.1:n.*122G>C
ENST00000652550.1:n.1212G>C
ENST00000293780.4:c.*4G>C ENSP00000293780.4:n.*4G>C
ENST00000572438.1:n.1172G>C
NM_000080.3:c.*4G>C NP_000071.1:n.*4G>C
NM_000080.4:c.*4G>C MANE Select NP_000071.1:n.*4G>C
XM_017024115.1:c.*4G>C XP_016879604.1:n.*4G>C
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