Canonical Allele Identifier: CA2635846322
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454606-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454606T>C , CM000679.2:g.7454606T>C GRCh38
NC_000017.10:g.7357925T>C , CM000679.1:g.7357925T>C GRCh37
NC_000017.9:g.7298649T>C NCBI36
NG_008026.1:g.14520T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+86T>C MANE Select ENSP00000304290.2:n.1044+86T>C
ENST00000306071.6:c.1044+86T>C ENSP00000304290.2:n.1044+86T>C
ENST00000536404.6:c.828+86T>C ENSP00000439209.2:n.828+86T>C
ENST00000570557.5:c.707+86T>C
ENST00000573209.1:n.1988+86T>C
ENST00000576360.1:c.681+86T>C ENSP00000459092.1:n.681+86T>C
NM_000747.2:c.1044+86T>C NP_000738.2:n.1044+86T>C
NM_000747.3:c.1044+86T>C MANE Select NP_000738.2:n.1044+86T>C
Search 100 bp 5'
Search 100 bp 3'