Canonical Allele Identifier: CA497676286
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802677A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899382A>C , CM000679.2:g.4899382A>C GRCh38
NC_000017.10:g.4802677A>C , CM000679.1:g.4802677A>C GRCh37
NC_000017.9:g.4743456A>C NCBI36
NG_008029.2:g.8694T>G
NG_028005.1:g.71043A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1035T>G MANE Select ENSP00000497829.1:p.Val345=
ENST00000649830.1:c.102T>G ENSP00000496907.1:p.Val34=
ENST00000652550.1:n.765T>G
ENST00000293780.4:c.1035T>G ENSP00000293780.4:p.Val345=
ENST00000572438.1:n.721T>G
NM_000080.3:c.1035T>G NP_000071.1:p.Val345=
NM_000080.4:c.1035T>G MANE Select NP_000071.1:p.Val345=
XM_017024115.1:c.999T>G XP_016879604.1:p.Val333=
XR_001752421.1:n.1765T>G