Canonical Allele Identifier: CA2897872
Gene: CHRNA9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.40335927C>T
GRCh37 chr4:g.40337944C>T
gnomAD v2:
4:40337944 C / T
gnomAD v3:
4:40335927 C / T
gnomAD v4:
chr4-40335927-C-T
Joint Max Group AF 0.25159274 (NFE)
Genomes Max Group AF 0.24404708 (NFE)
Exomes Max Group AF 0.25188721 (NFE)
dbSNP:
56159866
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40335927C>T , CM000666.2:g.40335927C>T GRCh38
NC_000004.11:g.40337944C>T , CM000666.1:g.40337944C>T GRCh37
NC_000004.10:g.40032701C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.165C>T MANE Select ENSP00000312663.2:p.Val55=
ENST00000310169.2:c.165C>T ENSP00000312663.2:p.Val55=
NM_017581.3:c.165C>T NP_060051.2:p.Val55=
NM_017581.4:c.165C>T MANE Select NP_060051.2:p.Val55=
Search 100 bp 5'
Search 100 bp 3'