Canonical Allele Identifier: CA397297240
Gene: CHRNE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898758T>G , CM000679.2:g.4898758T>G GRCh38
NC_000017.10:g.4802053T>G , CM000679.1:g.4802053T>G GRCh37
NC_000017.9:g.4742832T>G NCBI36
NG_008029.2:g.9318A>C
NG_028005.1:g.70419T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1460A>C MANE Select ENSP00000497829.1:p.Tyr487Ser
ENST00000649830.1:c.*96A>C ENSP00000496907.1:n.*96A>C
ENST00000652550.1:n.1186A>C
ENST00000293780.4:c.1460A>C ENSP00000293780.4:p.Tyr487Ser
ENST00000572438.1:n.1146A>C
NM_000080.3:c.1460A>C NP_000071.1:p.Tyr487Ser
NM_000080.4:c.1460A>C MANE Select NP_000071.1:p.Tyr487Ser
XM_017024115.1:c.1424A>C XP_016879604.1:p.Tyr475Ser