Canonical Allele Identifier: CA397297477
Gene: CHRNE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898800A>G , CM000679.2:g.4898800A>G GRCh38
NC_000017.10:g.4802095A>G , CM000679.1:g.4802095A>G GRCh37
NC_000017.9:g.4742874A>G NCBI36
NG_008029.2:g.9276T>C
NG_028005.1:g.70461A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1418T>C MANE Select ENSP00000497829.1:p.Ile473Thr
ENST00000649830.1:c.*54T>C ENSP00000496907.1:n.*54T>C
ENST00000652550.1:n.1144T>C
ENST00000293780.4:c.1418T>C ENSP00000293780.4:p.Ile473Thr
ENST00000572438.1:n.1104T>C
NM_000080.3:c.1418T>C NP_000071.1:p.Ile473Thr
NM_000080.4:c.1418T>C MANE Select NP_000071.1:p.Ile473Thr
XM_017024115.1:c.1382T>C XP_016879604.1:p.Ile461Thr