Canonical Allele Identifier: CA356708623
Gene: CHRNA9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354494A>C , CM000666.2:g.40354494A>C GRCh38
NC_000004.11:g.40356511A>C , CM000666.1:g.40356511A>C GRCh37
NC_000004.10:g.40051268A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1414A>C MANE Select ENSP00000312663.2:p.Ile472Leu
ENST00000310169.2:c.1414A>C ENSP00000312663.2:p.Ile472Leu
NM_017581.3:c.1414A>C NP_060051.2:p.Ile472Leu
NM_017581.4:c.1414A>C MANE Select NP_060051.2:p.Ile472Leu