Canonical Allele Identifier: CA2635577410
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898704-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898704G>A , CM000679.2:g.4898704G>A GRCh38
NC_000017.10:g.4801999G>A , CM000679.1:g.4801999G>A GRCh37
NC_000017.9:g.4742778G>A NCBI36
NG_008029.2:g.9372C>T
NG_028005.1:g.70365G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*32C>T MANE Select ENSP00000497829.1:n.*32C>T
ENST00000649830.1:c.*150C>T ENSP00000496907.1:n.*150C>T
ENST00000652550.1:n.1240C>T
ENST00000293780.4:c.*32C>T ENSP00000293780.4:n.*32C>T
ENST00000572438.1:n.1200C>T
NM_000080.3:c.*32C>T NP_000071.1:n.*32C>T
NM_000080.4:c.*32C>T MANE Select NP_000071.1:n.*32C>T
XM_017024115.1:c.*32C>T XP_016879604.1:n.*32C>T