Canonical Allele Identifier: CA2635576117
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898118-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898118C>A , CM000679.2:g.4898118C>A GRCh38
NC_000017.10:g.4801413C>A , CM000679.1:g.4801413C>A GRCh37
NC_000017.9:g.4742192C>A NCBI36
NG_008029.2:g.9958G>T
NG_028005.1:g.69779C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*618G>T MANE Select ENSP00000497829.1:n.*618G>T
ENST00000649830.1:c.*736G>T ENSP00000496907.1:n.*736G>T
ENST00000652550.1:n.1826G>T
ENST00000293780.4:c.*618G>T ENSP00000293780.4:n.*618G>T
ENST00000572438.1:n.1786G>T
NM_000080.3:c.*618G>T NP_000071.1:n.*618G>T
NM_000080.4:c.*618G>T MANE Select NP_000071.1:n.*618G>T
XM_017024115.1:c.*618G>T XP_016879604.1:n.*618G>T
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