Canonical Allele Identifier: CA2635846281
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454543-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454543A>C , CM000679.2:g.7454543A>C GRCh38
NC_000017.10:g.7357862A>C , CM000679.1:g.7357862A>C GRCh37
NC_000017.9:g.7298586A>C NCBI36
NG_008026.1:g.14457A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+23A>C MANE Select ENSP00000304290.2:n.1044+23A>C
ENST00000306071.6:c.1044+23A>C ENSP00000304290.2:n.1044+23A>C
ENST00000536404.6:c.828+23A>C ENSP00000439209.2:n.828+23A>C
ENST00000570557.5:c.707+23A>C
ENST00000573209.1:n.1988+23A>C
ENST00000576360.1:c.681+23A>C ENSP00000459092.1:n.681+23A>C
NM_000747.2:c.1044+23A>C NP_000738.2:n.1044+23A>C
NM_000747.3:c.1044+23A>C MANE Select NP_000738.2:n.1044+23A>C
Search 100 bp 5'
Search 100 bp 3'