Canonical Allele Identifier: CA2244610288
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969813928
gnomAD v4: 17-4898710-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898710G>A , CM000679.2:g.4898710G>A GRCh38
NC_000017.10:g.4802005G>A , CM000679.1:g.4802005G>A GRCh37
NC_000017.9:g.4742784G>A NCBI36
NG_008029.2:g.9366C>T
NG_028005.1:g.70371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*26C>T MANE Select ENSP00000497829.1:n.*26C>T
ENST00000649830.1:c.*144C>T ENSP00000496907.1:n.*144C>T
ENST00000652550.1:n.1234C>T
ENST00000293780.4:c.*26C>T ENSP00000293780.4:n.*26C>T
ENST00000572438.1:n.1194C>T
NM_000080.3:c.*26C>T NP_000071.1:n.*26C>T
NM_000080.4:c.*26C>T MANE Select NP_000071.1:n.*26C>T
XM_017024115.1:c.*26C>T XP_016879604.1:n.*26C>T