Canonical Allele Identifier: CA438955632
Gene: CHRNA9 HGNC NCBI

Linked Data

dbSNP Id: rs1215452149
gnomAD v2: 4-40356498-G-A
gnomAD v4: 4-40354481-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354481G>A , CM000666.2:g.40354481G>A GRCh38
NC_000004.11:g.40356498G>A , CM000666.1:g.40356498G>A GRCh37
NC_000004.10:g.40051255G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1401G>A MANE Select ENSP00000312663.2:p.Val467=
ENST00000310169.2:c.1401G>A ENSP00000312663.2:p.Val467=
NM_017581.3:c.1401G>A NP_060051.2:p.Val467=
NM_017581.4:c.1401G>A MANE Select NP_060051.2:p.Val467=