Canonical Allele Identifier: CA356706535

Gene: CHRNA9

Linked Data

• dbSNP Id: rs1712890659
• gnomAD v3: 4-40354311-C-T
• gnomAD v4: 4-40354311-C-T
• COSMIC: COSM3603647
• MyVariant Identifiers: chr4:g.40356328C>T (hg19) ; chr4:g.40354311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40354311C>T , CM000666.2:g.40354311C>T	GRCh38
NC_000004.11:g.40356328C>T , CM000666.1:g.40356328C>T	GRCh37
NC_000004.10:g.40051085C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310169.3:c.1231C>T MANE Select	ENSP00000312663.2:p.Pro411Ser
ENST00000310169.2:c.1231C>T	ENSP00000312663.2:p.Pro411Ser
NM_017581.3:c.1231C>T	NP_060051.2:p.Pro411Ser
NM_017581.4:c.1231C>T MANE Select	NP_060051.2:p.Pro411Ser