Canonical Allele Identifier: CA397798951
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7357832T>A (hg19) chr17:g.7454513T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454513T>A , CM000679.2:g.7454513T>A GRCh38
NC_000017.10:g.7357832T>A , CM000679.1:g.7357832T>A GRCh37
NC_000017.9:g.7298556T>A NCBI36
NG_008026.1:g.14427T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1037T>A MANE Select ENSP00000304290.2:p.Val346Asp
ENST00000306071.6:c.1037T>A ENSP00000304290.2:p.Val346Asp
ENST00000536404.6:c.821T>A ENSP00000439209.2:p.Val274Asp
ENST00000570557.5:c.700T>A
ENST00000573209.1:n.1981T>A
ENST00000576360.1:c.674T>A ENSP00000459092.1:p.Val225Asp
NM_000747.2:c.1037T>A NP_000738.2:p.Val346Asp
NM_000747.3:c.1037T>A MANE Select NP_000738.2:p.Val346Asp
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Search 100 bp 3'