Canonical Allele Identifier: CA794798690

Gene: CHRNA9

Linked Data

• dbSNP Id: rs1379019444
• MyVariant Identifiers: chr4:g.40356265_40356266insA (hg19) ; chr4:g.40354248_40354249insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.40354248_40354249insA , CM000666.2:g.40354248_40354249insA	GRCh38
NC_000004.11:g.40356265_40356266insA , CM000666.1:g.40356265_40356266insA	GRCh37
NC_000004.10:g.40051022_40051023insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310169.3:c.1168_1169insA MANE Select	ENSP00000312663.2:p.Leu390HisfsTer20
ENST00000310169.2:c.1168_1169insA	ENSP00000312663.2:p.Leu390HisfsTer20
NM_017581.3:c.1168_1169insA	NP_060051.2:p.Leu390HisfsTer20
NM_017581.4:c.1168_1169insA MANE Select	NP_060051.2:p.Leu390HisfsTer20