Canonical Allele Identifier: CA2898192
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs759080788
gnomAD v2: 4-40356467-G-A
gnomAD v4: 4-40354450-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354450G>A , CM000666.2:g.40354450G>A GRCh38
NC_000004.11:g.40356467G>A , CM000666.1:g.40356467G>A GRCh37
NC_000004.10:g.40051224G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1370G>A MANE Select ENSP00000312663.2:p.Arg457Gln
ENST00000310169.2:c.1370G>A ENSP00000312663.2:p.Arg457Gln
NM_017581.3:c.1370G>A NP_060051.2:p.Arg457Gln
NM_017581.4:c.1370G>A MANE Select NP_060051.2:p.Arg457Gln