Canonical Allele Identifier: CA2635576087
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898076-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898076C>A , CM000679.2:g.4898076C>A GRCh38
NC_000017.10:g.4801371C>A , CM000679.1:g.4801371C>A GRCh37
NC_000017.9:g.4742150C>A NCBI36
NG_008029.2:g.10000G>T
NG_028005.1:g.69737C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*660G>T MANE Select ENSP00000497829.1:n.*660G>T
ENST00000652550.1:n.1868G>T
ENST00000293780.4:c.*660G>T ENSP00000293780.4:n.*660G>T
ENST00000572438.1:n.1828G>T
NM_000080.3:c.*660G>T NP_000071.1:n.*660G>T
NM_000080.4:c.*660G>T MANE Select NP_000071.1:n.*660G>T
XM_017024115.1:c.*660G>T XP_016879604.1:n.*660G>T