Canonical Allele Identifier: CA397798694
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454486-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454486C>T , CM000679.2:g.7454486C>T GRCh38
NC_000017.10:g.7357805C>T , CM000679.1:g.7357805C>T GRCh37
NC_000017.9:g.7298529C>T NCBI36
NG_008026.1:g.14400C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1010C>T MANE Select ENSP00000304290.2:p.Pro337Leu
ENST00000306071.6:c.1010C>T ENSP00000304290.2:p.Pro337Leu
ENST00000536404.6:c.794C>T ENSP00000439209.2:p.Pro265Leu
ENST00000570557.5:c.673C>T
ENST00000573209.1:n.1954C>T
ENST00000576360.1:c.647C>T ENSP00000459092.1:p.Pro216Leu
NM_000747.2:c.1010C>T NP_000738.2:p.Pro337Leu
NM_000747.3:c.1010C>T MANE Select NP_000738.2:p.Pro337Leu