Canonical Allele Identifier: CA397798936
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454510G>T , CM000679.2:g.7454510G>T GRCh38
NC_000017.10:g.7357829G>T , CM000679.1:g.7357829G>T GRCh37
NC_000017.9:g.7298553G>T NCBI36
NG_008026.1:g.14424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1034G>T MANE Select ENSP00000304290.2:p.Trp345Leu
ENST00000306071.6:c.1034G>T ENSP00000304290.2:p.Trp345Leu
ENST00000536404.6:c.818G>T ENSP00000439209.2:p.Trp273Leu
ENST00000570557.5:c.697G>T
ENST00000573209.1:n.1978G>T
ENST00000576360.1:c.671G>T ENSP00000459092.1:p.Trp224Leu
NM_000747.2:c.1034G>T NP_000738.2:p.Trp345Leu
NM_000747.3:c.1034G>T MANE Select NP_000738.2:p.Trp345Leu