Canonical Allele Identifier: CA356708407
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs1301504546
gnomAD v2: 4-40356481-A-T
gnomAD v3: 4-40354464-A-T
gnomAD v4: 4-40354464-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354464A>T , CM000666.2:g.40354464A>T GRCh38
NC_000004.11:g.40356481A>T , CM000666.1:g.40356481A>T GRCh37
NC_000004.10:g.40051238A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1384A>T MANE Select ENSP00000312663.2:p.Ile462Phe
ENST00000310169.2:c.1384A>T ENSP00000312663.2:p.Ile462Phe
NM_017581.3:c.1384A>T NP_060051.2:p.Ile462Phe
NM_017581.4:c.1384A>T MANE Select NP_060051.2:p.Ile462Phe