Canonical Allele Identifier: CA356705521
Gene: CHRNA9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354122G>A , CM000666.2:g.40354122G>A GRCh38
NC_000004.11:g.40356139G>A , CM000666.1:g.40356139G>A GRCh37
NC_000004.10:g.40050896G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1042G>A MANE Select ENSP00000312663.2:p.Val348Ile
ENST00000310169.2:c.1042G>A ENSP00000312663.2:p.Val348Ile
NM_017581.3:c.1042G>A NP_060051.2:p.Val348Ile
NM_017581.4:c.1042G>A MANE Select NP_060051.2:p.Val348Ile