Canonical Allele Identifier: CA794768364
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs1316132064
gnomAD v3: 4-40354436-GA-G
gnomAD v4: 4-40354436-GA-G
MyVariant Identifiers: chr4:g.40356454del (hg19) chr4:g.40354437del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354439del , CM000666.2:g.40354439del GRCh38
NC_000004.11:g.40356456del , CM000666.1:g.40356456del GRCh37
NC_000004.10:g.40051213del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1359del MANE Select ENSP00000312663.2:p.Val454SerfsTer2
ENST00000310169.2:c.1359del ENSP00000312663.2:p.Val454SerfsTer2
NM_017581.3:c.1359del NP_060051.2:p.Val454SerfsTer2
NM_017581.4:c.1359del MANE Select NP_060051.2:p.Val454SerfsTer2
Search 100 bp 5'
Search 100 bp 3'