Canonical Allele Identifier: CA497675824
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802085C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898790C>G , CM000679.2:g.4898790C>G GRCh38
NC_000017.10:g.4802085C>G , CM000679.1:g.4802085C>G GRCh37
NC_000017.9:g.4742864C>G NCBI36
NG_008029.2:g.9286G>C
NG_028005.1:g.70451C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1428G>C MANE Select ENSP00000497829.1:p.Gly476=
ENST00000649830.1:c.*64G>C ENSP00000496907.1:n.*64G>C
ENST00000652550.1:n.1154G>C
ENST00000293780.4:c.1428G>C ENSP00000293780.4:p.Gly476=
ENST00000572438.1:n.1114G>C
NM_000080.3:c.1428G>C NP_000071.1:p.Gly476=
NM_000080.4:c.1428G>C MANE Select NP_000071.1:p.Gly476=
XM_017024115.1:c.1392G>C XP_016879604.1:p.Gly464=