Canonical Allele Identifier: CA287432543
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2192805
ClinVar RCV Id: RCV002607665
dbSNP Id: rs1039338082
gnomAD v2: 17-7359201-G-T
gnomAD v4: 17-7455882-G-T
MyVariant Identifiers: chr17:g.7359201G>T (hg19) chr17:g.7455882G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455882G>T , CM000679.2:g.7455882G>T GRCh38
NC_000017.10:g.7359201G>T , CM000679.1:g.7359201G>T GRCh37
NC_000017.9:g.7299925G>T NCBI36
NG_008026.1:g.15796G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1306G>T MANE Select ENSP00000304290.2:p.Val436Phe
ENST00000306071.6:c.1306G>T ENSP00000304290.2:p.Val436Phe
ENST00000536404.6:c.1090G>T ENSP00000439209.2:p.Val364Phe
ENST00000575379.1:c.-87G>T ENSP00000461751.1:n.-87G>T
ENST00000576360.1:c.943G>T ENSP00000459092.1:p.Val315Phe
NM_000747.2:c.1306G>T NP_000738.2:p.Val436Phe
NM_000747.3:c.1306G>T MANE Select NP_000738.2:p.Val436Phe
Search 100 bp 5'
Search 100 bp 3'