Canonical Allele Identifier: CA356705532
Gene: CHRNA9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354125T>G , CM000666.2:g.40354125T>G GRCh38
NC_000004.11:g.40356142T>G , CM000666.1:g.40356142T>G GRCh37
NC_000004.10:g.40050899T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1045T>G MANE Select ENSP00000312663.2:p.Leu349Val
ENST00000310169.2:c.1045T>G ENSP00000312663.2:p.Leu349Val
NM_017581.3:c.1045T>G NP_060051.2:p.Leu349Val
NM_017581.4:c.1045T>G MANE Select NP_060051.2:p.Leu349Val