Canonical Allele Identifier: CA2244609885
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969775370
gnomAD v4: 17-4898128-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898128G>A , CM000679.2:g.4898128G>A GRCh38
NC_000017.10:g.4801423G>A , CM000679.1:g.4801423G>A GRCh37
NC_000017.9:g.4742202G>A NCBI36
NG_008029.2:g.9948C>T
NG_028005.1:g.69789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*608C>T MANE Select ENSP00000497829.1:n.*608C>T
ENST00000649830.1:c.*726C>T ENSP00000496907.1:n.*726C>T
ENST00000652550.1:n.1816C>T
ENST00000293780.4:c.*608C>T ENSP00000293780.4:n.*608C>T
ENST00000572438.1:n.1776C>T
NM_000080.3:c.*608C>T NP_000071.1:n.*608C>T
NM_000080.4:c.*608C>T MANE Select NP_000071.1:n.*608C>T
XM_017024115.1:c.*608C>T XP_016879604.1:n.*608C>T
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