Canonical Allele Identifier: CA2898202
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs780380156
gnomAD v2: 4-40356521-T-C
gnomAD v3: 4-40354504-T-C
gnomAD v4: 4-40354504-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354504T>C , CM000666.2:g.40354504T>C GRCh38
NC_000004.11:g.40356521T>C , CM000666.1:g.40356521T>C GRCh37
NC_000004.10:g.40051278T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1424T>C MANE Select ENSP00000312663.2:p.Ile475Thr
ENST00000310169.2:c.1424T>C ENSP00000312663.2:p.Ile475Thr
NM_017581.3:c.1424T>C NP_060051.2:p.Ile475Thr
NM_017581.4:c.1424T>C MANE Select NP_060051.2:p.Ile475Thr