Canonical Allele Identifier: CA397297352
Gene: CHRNE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898778G>T , CM000679.2:g.4898778G>T GRCh38
NC_000017.10:g.4802073G>T , CM000679.1:g.4802073G>T GRCh37
NC_000017.9:g.4742852G>T NCBI36
NG_008029.2:g.9298C>A
NG_028005.1:g.70439G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1440C>A MANE Select ENSP00000497829.1:p.Asn480Lys
ENST00000649830.1:c.*76C>A ENSP00000496907.1:n.*76C>A
ENST00000652550.1:n.1166C>A
ENST00000293780.4:c.1440C>A ENSP00000293780.4:p.Asn480Lys
ENST00000572438.1:n.1126C>A
NM_000080.3:c.1440C>A NP_000071.1:p.Asn480Lys
NM_000080.4:c.1440C>A MANE Select NP_000071.1:p.Asn480Lys
XM_017024115.1:c.1404C>A XP_016879604.1:p.Asn468Lys