Canonical Allele Identifier: CA2635576084
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898071-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898071C>A , CM000679.2:g.4898071C>A GRCh38
NC_000017.10:g.4801366C>A , CM000679.1:g.4801366C>A GRCh37
NC_000017.9:g.4742145C>A NCBI36
NG_008029.2:g.10005G>T
NG_028005.1:g.69732C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*665G>T MANE Select ENSP00000497829.1:n.*665G>T
ENST00000652550.1:n.1873G>T
ENST00000293780.4:c.*665G>T ENSP00000293780.4:n.*665G>T
ENST00000572438.1:n.1833G>T
NM_000080.3:c.*665G>T NP_000071.1:n.*665G>T
NM_000080.4:c.*665G>T MANE Select NP_000071.1:n.*665G>T
XM_017024115.1:c.*665G>T XP_016879604.1:n.*665G>T