Canonical Allele Identifier: CA2898141

Gene: CHRNA9

Linked Data

• ClinVar Variation Id: 3144640
• ClinVar RCV Id: RCV004441497
• dbSNP Id: rs554971348
• ExAC: 4:40356197 G / A
• gnomAD v2: 4-40356197-G-A
• gnomAD v3: 4-40354180-G-A
• gnomAD v4: 4-40354180-G-A
• MyVariant Identifiers: chr4:g.40356197G>A (hg19) ; chr4:g.40354180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40354180G>A , CM000666.2:g.40354180G>A	GRCh38
NC_000004.11:g.40356197G>A , CM000666.1:g.40356197G>A	GRCh37
NC_000004.10:g.40050954G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310169.3:c.1100G>A MANE Select	ENSP00000312663.2:p.Arg367Gln
ENST00000310169.2:c.1100G>A	ENSP00000312663.2:p.Arg367Gln
NM_017581.3:c.1100G>A	NP_060051.2:p.Arg367Gln
NM_017581.4:c.1100G>A MANE Select	NP_060051.2:p.Arg367Gln