Canonical Allele Identifier: CA2635577358
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898673-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898673C>A , CM000679.2:g.4898673C>A GRCh38
NC_000017.10:g.4801968C>A , CM000679.1:g.4801968C>A GRCh37
NC_000017.9:g.4742747C>A NCBI36
NG_008029.2:g.9403G>T
NG_028005.1:g.70334C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*63G>T MANE Select ENSP00000497829.1:n.*63G>T
ENST00000649830.1:c.*181G>T ENSP00000496907.1:n.*181G>T
ENST00000652550.1:n.1271G>T
ENST00000293780.4:c.*63G>T ENSP00000293780.4:n.*63G>T
ENST00000572438.1:n.1231G>T
NM_000080.3:c.*63G>T NP_000071.1:n.*63G>T
NM_000080.4:c.*63G>T MANE Select NP_000071.1:n.*63G>T
XM_017024115.1:c.*63G>T XP_016879604.1:n.*63G>T