Canonical Allele Identifier: CA551140729

Gene: CHRNA9

Linked Data

• dbSNP Id: rs1560319575
• gnomAD v2: 4-40356210-GA-G
• gnomAD v4: 4-40354193-GA-G
• MyVariant Identifiers: chr4:g.40356211del (hg19) ; chr4:g.40354194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40354196del , CM000666.2:g.40354196del	GRCh38
NC_000004.11:g.40356213del , CM000666.1:g.40356213del	GRCh37
NC_000004.10:g.40050970del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310169.3:c.1116del MANE Select	ENSP00000312663.2:p.Val373PhefsTer10
ENST00000310169.2:c.1116del	ENSP00000312663.2:p.Val373PhefsTer10
NM_017581.3:c.1116del	NP_060051.2:p.Val373PhefsTer10
NM_017581.4:c.1116del MANE Select	NP_060051.2:p.Val373PhefsTer10