Canonical Allele Identifier: CA2635847045
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455995-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455995C>T , CM000679.2:g.7455995C>T GRCh38
NC_000017.10:g.7359314C>T , CM000679.1:g.7359314C>T GRCh37
NC_000017.9:g.7300038C>T NCBI36
NG_008026.1:g.15909C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1365+54C>T MANE Select ENSP00000304290.2:n.1365+54C>T
ENST00000306071.6:c.1365+54C>T ENSP00000304290.2:n.1365+54C>T
ENST00000536404.6:c.1149+54C>T ENSP00000439209.2:n.1149+54C>T
ENST00000575379.1:c.-28+54C>T ENSP00000461751.1:n.-28+54C>T
ENST00000576360.1:c.1002+54C>T ENSP00000459092.1:n.1002+54C>T
NM_000747.2:c.1365+54C>T NP_000738.2:n.1365+54C>T
NM_000747.3:c.1365+54C>T MANE Select NP_000738.2:n.1365+54C>T