Canonical Allele Identifier: CA2244609900
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969777201
gnomAD v4: 17-4898145-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898145G>C , CM000679.2:g.4898145G>C GRCh38
NC_000017.10:g.4801440G>C , CM000679.1:g.4801440G>C GRCh37
NC_000017.9:g.4742219G>C NCBI36
NG_008029.2:g.9931C>G
NG_028005.1:g.69806G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*591C>G MANE Select ENSP00000497829.1:n.*591C>G
ENST00000649830.1:c.*709C>G ENSP00000496907.1:n.*709C>G
ENST00000652550.1:n.1799C>G
ENST00000293780.4:c.*591C>G ENSP00000293780.4:n.*591C>G
ENST00000572438.1:n.1759C>G
NM_000080.3:c.*591C>G NP_000071.1:n.*591C>G
NM_000080.4:c.*591C>G MANE Select NP_000071.1:n.*591C>G
XM_017024115.1:c.*591C>G XP_016879604.1:n.*591C>G
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