Canonical Allele Identifier: CA2576135543
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898785dup , CM000679.2:g.4898785dup GRCh38
NC_000017.10:g.4802080dup , CM000679.1:g.4802080dup GRCh37
NC_000017.9:g.4742859dup NCBI36
NG_008029.2:g.9291dup
NG_028005.1:g.70446dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1433dup MANE Select ENSP00000497829.1:p.Tyr478Ter
ENST00000649830.1:c.*69dup ENSP00000496907.1:n.*69dup
ENST00000652550.1:n.1159dup
ENST00000293780.4:c.1433dup ENSP00000293780.4:p.Tyr478Ter
ENST00000572438.1:n.1119dup
NM_000080.3:c.1433dup NP_000071.1:p.Tyr478Ter
NM_000080.4:c.1433dup MANE Select NP_000071.1:p.Tyr478Ter
XM_017024115.1:c.1397dup XP_016879604.1:p.Tyr466Ter