Canonical Allele Identifier: CA356707369
Gene: CHRNA9 HGNC NCBI

Linked Data

gnomAD v4: 4-40354407-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354407T>C , CM000666.2:g.40354407T>C GRCh38
NC_000004.11:g.40356424T>C , CM000666.1:g.40356424T>C GRCh37
NC_000004.10:g.40051181T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000310169.3:c.1327T>C MANE Select ENSP00000312663.2:p.Ser443Pro
ENST00000310169.2:c.1327T>C ENSP00000312663.2:p.Ser443Pro
NM_017581.3:c.1327T>C NP_060051.2:p.Ser443Pro
NM_017581.4:c.1327T>C MANE Select NP_060051.2:p.Ser443Pro