Canonical Allele Identifier: CA356708518
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs1446568091
gnomAD v2: 4-40356496-G-T
gnomAD v3: 4-40354479-G-T
gnomAD v4: 4-40354479-G-T
MyVariant Identifiers: chr4:g.40356496G>T (hg19) chr4:g.40354479G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354479G>T , CM000666.2:g.40354479G>T GRCh38
NC_000004.11:g.40356496G>T , CM000666.1:g.40356496G>T GRCh37
NC_000004.10:g.40051253G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1399G>T MANE Select ENSP00000312663.2:p.Val467Leu
ENST00000310169.2:c.1399G>T ENSP00000312663.2:p.Val467Leu
NM_017581.3:c.1399G>T NP_060051.2:p.Val467Leu
NM_017581.4:c.1399G>T MANE Select NP_060051.2:p.Val467Leu
Search 100 bp 5'
Search 100 bp 3'