Canonical Allele Identifier: CA397802020
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7359114T>C (hg19) chr17:g.7455795T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455795T>C , CM000679.2:g.7455795T>C GRCh38
NC_000017.10:g.7359114T>C , CM000679.1:g.7359114T>C GRCh37
NC_000017.9:g.7299838T>C NCBI36
NG_008026.1:g.15709T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1219T>C MANE Select ENSP00000304290.2:p.Phe407Leu
ENST00000306071.6:c.1219T>C ENSP00000304290.2:p.Phe407Leu
ENST00000536404.6:c.1003T>C ENSP00000439209.2:p.Phe335Leu
ENST00000570557.5:c.882T>C
ENST00000575379.1:c.-174T>C ENSP00000461751.1:n.-174T>C
ENST00000576360.1:c.856T>C ENSP00000459092.1:p.Phe286Leu
NM_000747.2:c.1219T>C NP_000738.2:p.Phe407Leu
NM_000747.3:c.1219T>C MANE Select NP_000738.2:p.Phe407Leu
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