Canonical Allele Identifier: CA356707239
Gene: CHRNA9 HGNC NCBI

Linked Data

gnomAD v4: 4-40354392-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354392C>A , CM000666.2:g.40354392C>A GRCh38
NC_000004.11:g.40356409C>A , CM000666.1:g.40356409C>A GRCh37
NC_000004.10:g.40051166C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1312C>A MANE Select ENSP00000312663.2:p.His438Asn
ENST00000310169.2:c.1312C>A ENSP00000312663.2:p.His438Asn
NM_017581.3:c.1312C>A NP_060051.2:p.His438Asn
NM_017581.4:c.1312C>A MANE Select NP_060051.2:p.His438Asn