Canonical Allele Identifier: CA624863734
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1319769343
gnomAD v2: 17-7359311-A-C
gnomAD v3: 17-7455992-A-C
gnomAD v4: 17-7455992-A-C
MyVariant Identifiers: chr17:g.7359311A>C (hg19) chr17:g.7455992A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455992A>C , CM000679.2:g.7455992A>C GRCh38
NC_000017.10:g.7359311A>C , CM000679.1:g.7359311A>C GRCh37
NC_000017.9:g.7300035A>C NCBI36
NG_008026.1:g.15906A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1365+51A>C MANE Select ENSP00000304290.2:n.1365+51A>C
ENST00000306071.6:c.1365+51A>C ENSP00000304290.2:n.1365+51A>C
ENST00000536404.6:c.1149+51A>C ENSP00000439209.2:n.1149+51A>C
ENST00000575379.1:c.-28+51A>C ENSP00000461751.1:n.-28+51A>C
ENST00000576360.1:c.1002+51A>C ENSP00000459092.1:n.1002+51A>C
NM_000747.2:c.1365+51A>C NP_000738.2:n.1365+51A>C
NM_000747.3:c.1365+51A>C MANE Select NP_000738.2:n.1365+51A>C
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