Canonical Allele Identifier: CA497744673
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454436-C-T
MyVariant Identifiers: chr17:g.7357755C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454436C>T , CM000679.2:g.7454436C>T GRCh38
NC_000017.10:g.7357755C>T , CM000679.1:g.7357755C>T GRCh37
NC_000017.9:g.7298479C>T NCBI36
NG_008026.1:g.14350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.960C>T MANE Select ENSP00000304290.2:p.Thr320=
ENST00000306071.6:c.960C>T ENSP00000304290.2:p.Thr320=
ENST00000536404.6:c.744C>T ENSP00000439209.2:p.Thr248=
ENST00000570557.5:c.623C>T
ENST00000573209.1:n.1904C>T
ENST00000576360.1:c.605-8C>T ENSP00000459092.1:n.605-8C>T
NM_000747.2:c.960C>T NP_000738.2:p.Thr320=
NM_000747.3:c.960C>T MANE Select NP_000738.2:p.Thr320=
Search 100 bp 5'
Search 100 bp 3'