Canonical Allele Identifier: CA2898138

Gene: CHRNA9

Linked Data

• ClinVar Variation Id: 2511645
• ClinVar RCV Id: RCV004284518
• dbSNP Id: rs755787195
• ExAC: 4:40356193 G / C
• gnomAD v2: 4-40356193-G-C
• gnomAD v3: 4-40354176-G-C
• gnomAD v4: 4-40354176-G-C
• MyVariant Identifiers: chr4:g.40356193G>C (hg19) ; chr4:g.40354176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40354176G>C , CM000666.2:g.40354176G>C	GRCh38
NC_000004.11:g.40356193G>C , CM000666.1:g.40356193G>C	GRCh37
NC_000004.10:g.40050950G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310169.3:c.1096G>C MANE Select	ENSP00000312663.2:p.Glu366Gln
ENST00000310169.2:c.1096G>C	ENSP00000312663.2:p.Glu366Gln
NM_017581.3:c.1096G>C	NP_060051.2:p.Glu366Gln
NM_017581.4:c.1096G>C MANE Select	NP_060051.2:p.Glu366Gln