Canonical Allele Identifier: CA356708316
Gene: CHRNA9 HGNC NCBI

Linked Data

gnomAD v4: 4-40354454-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354454C>A , CM000666.2:g.40354454C>A GRCh38
NC_000004.11:g.40356471C>A , CM000666.1:g.40356471C>A GRCh37
NC_000004.10:g.40051228C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1374C>A MANE Select ENSP00000312663.2:p.Phe458Leu
ENST00000310169.2:c.1374C>A ENSP00000312663.2:p.Phe458Leu
NM_017581.3:c.1374C>A NP_060051.2:p.Phe458Leu
NM_017581.4:c.1374C>A MANE Select NP_060051.2:p.Phe458Leu