Canonical Allele Identifier: CA356706086

Gene: CHRNA9

Linked Data

• dbSNP Id: rs1406616134
• gnomAD v2: 4-40356265-C-A
• gnomAD v4: 4-40354248-C-A
• MyVariant Identifiers: chr4:g.40356265C>A (hg19) ; chr4:g.40354248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40354248C>A , CM000666.2:g.40354248C>A	GRCh38
NC_000004.11:g.40356265C>A , CM000666.1:g.40356265C>A	GRCh37
NC_000004.10:g.40051022C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310169.3:c.1168C>A MANE Select	ENSP00000312663.2:p.Leu390Ile
ENST00000310169.2:c.1168C>A	ENSP00000312663.2:p.Leu390Ile
NM_017581.3:c.1168C>A	NP_060051.2:p.Leu390Ile
NM_017581.4:c.1168C>A MANE Select	NP_060051.2:p.Leu390Ile