Canonical Allele Identifier: CA2898185
Gene: CHRNA9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.40354410A>G
GRCh37 chr4:g.40356427A>G
Revel Score:
ENST00000310169 (MANE Select) 0.714
gnomAD v2:
4:40356427 A / G
gnomAD v3:
4:40354410 A / G
gnomAD v4:
chr4-40354410-A-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354410A>G , CM000666.2:g.40354410A>G GRCh38
NC_000004.11:g.40356427A>G , CM000666.1:g.40356427A>G GRCh37
NC_000004.10:g.40051184A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1330A>G MANE Select ENSP00000312663.2:p.Lys444Glu
ENST00000310169.2:c.1330A>G ENSP00000312663.2:p.Lys444Glu
NM_017581.3:c.1330A>G NP_060051.2:p.Lys444Glu
NM_017581.4:c.1330A>G MANE Select NP_060051.2:p.Lys444Glu
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