Canonical Allele Identifier: CA397800750
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455354-A-C
MyVariant Identifiers: chr17:g.7358673A>C (hg19) chr17:g.7455354A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455354A>C , CM000679.2:g.7455354A>C GRCh38
NC_000017.10:g.7358673A>C , CM000679.1:g.7358673A>C GRCh37
NC_000017.9:g.7299397A>C NCBI36
NG_008026.1:g.15268A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1115A>C MANE Select ENSP00000304290.2:p.Glu372Ala
ENST00000306071.6:c.1115A>C ENSP00000304290.2:p.Glu372Ala
ENST00000536404.6:c.899A>C ENSP00000439209.2:p.Glu300Ala
ENST00000570557.5:c.778A>C
ENST00000573209.1:n.2059A>C
ENST00000576360.1:c.752A>C ENSP00000459092.1:p.Glu251Ala
NM_000747.2:c.1115A>C NP_000738.2:p.Glu372Ala
NM_000747.3:c.1115A>C MANE Select NP_000738.2:p.Glu372Ala
Search 100 bp 5'
Search 100 bp 3'