Canonical Allele Identifier: CA2898159
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs779308915
gnomAD v2: 4-40356293-G-A
gnomAD v3: 4-40354276-G-A
gnomAD v4: 4-40354276-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354276G>A , CM000666.2:g.40354276G>A GRCh38
NC_000004.11:g.40356293G>A , CM000666.1:g.40356293G>A GRCh37
NC_000004.10:g.40051050G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1196G>A MANE Select ENSP00000312663.2:p.Arg399His
ENST00000310169.2:c.1196G>A ENSP00000312663.2:p.Arg399His
NM_017581.3:c.1196G>A NP_060051.2:p.Arg399His
NM_017581.4:c.1196G>A MANE Select NP_060051.2:p.Arg399His