Canonical Allele Identifier: CA2898193
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs764950252
gnomAD v2: 4-40356476-T-G
gnomAD v3: 4-40354459-T-G
gnomAD v4: 4-40354459-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354459T>G , CM000666.2:g.40354459T>G GRCh38
NC_000004.11:g.40356476T>G , CM000666.1:g.40356476T>G GRCh37
NC_000004.10:g.40051233T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1379T>G MANE Select ENSP00000312663.2:p.Met460Arg
ENST00000310169.2:c.1379T>G ENSP00000312663.2:p.Met460Arg
NM_017581.3:c.1379T>G NP_060051.2:p.Met460Arg
NM_017581.4:c.1379T>G MANE Select NP_060051.2:p.Met460Arg