Canonical Allele Identifier: CA772622463
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1274655594
gnomAD v3: 17-4898655-A-T
gnomAD v4: 17-4898655-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898655A>T , CM000679.2:g.4898655A>T GRCh38
NC_000017.10:g.4801950A>T , CM000679.1:g.4801950A>T GRCh37
NC_000017.9:g.4742729A>T NCBI36
NG_008029.2:g.9421T>A
NG_028005.1:g.70316A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*81T>A MANE Select ENSP00000497829.1:n.*81T>A
ENST00000649830.1:c.*199T>A ENSP00000496907.1:n.*199T>A
ENST00000652550.1:n.1289T>A
ENST00000293780.4:c.*81T>A ENSP00000293780.4:n.*81T>A
ENST00000572438.1:n.1249T>A
NM_000080.3:c.*81T>A NP_000071.1:n.*81T>A
NM_000080.4:c.*81T>A MANE Select NP_000071.1:n.*81T>A
XM_017024115.1:c.*81T>A XP_016879604.1:n.*81T>A