Canonical Allele Identifier: CA2898162
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs778382079
gnomAD v2: 4-40356308-T-C
gnomAD v4: 4-40354291-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354291T>C , CM000666.2:g.40354291T>C GRCh38
NC_000004.11:g.40356308T>C , CM000666.1:g.40356308T>C GRCh37
NC_000004.10:g.40051065T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1211T>C MANE Select ENSP00000312663.2:p.Leu404Pro
ENST00000310169.2:c.1211T>C ENSP00000312663.2:p.Leu404Pro
NM_017581.3:c.1211T>C NP_060051.2:p.Leu404Pro
NM_017581.4:c.1211T>C MANE Select NP_060051.2:p.Leu404Pro