Canonical Allele Identifier: CA2244610334
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898776C= , CM000679.2:g.4898776C= GRCh38
NC_000017.10:g.4802071C= , CM000679.1:g.4802071C= GRCh37
NC_000017.9:g.4742850C= NCBI36
NG_008029.2:g.9300G=
NG_028005.1:g.70437C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1442G= MANE Select ENSP00000497829.1:p.Arg481=
ENST00000649830.1:c.*78G= ENSP00000496907.1:n.*78G=
ENST00000652550.1:n.1168G=
ENST00000293780.4:c.1442G= ENSP00000293780.4:p.Arg481=
ENST00000572438.1:n.1128G=
NM_000080.3:c.1442G= NP_000071.1:p.Arg481=
NM_000080.4:c.1442G= MANE Select NP_000071.1:p.Arg481=
XM_017024115.1:c.1406G= XP_016879604.1:p.Arg469=