Canonical Allele Identifier: CA356708320

Gene: CHRNA9

Linked Data

• gnomAD v4: 4-40354454-C-G
• COSMIC: COSM4996438
• MyVariant Identifiers: chr4:g.40356471C>G (hg19) ; chr4:g.40354454C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40354454C>G , CM000666.2:g.40354454C>G	GRCh38
NC_000004.11:g.40356471C>G , CM000666.1:g.40356471C>G	GRCh37
NC_000004.10:g.40051228C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310169.3:c.1374C>G MANE Select	ENSP00000312663.2:p.Phe458Leu
ENST00000310169.2:c.1374C>G	ENSP00000312663.2:p.Phe458Leu
NM_017581.3:c.1374C>G	NP_060051.2:p.Phe458Leu
NM_017581.4:c.1374C>G MANE Select	NP_060051.2:p.Phe458Leu