Canonical Allele Identifier: CA624701940
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1337723679
gnomAD v2: 17-7357964-T-A
gnomAD v3: 17-7454645-T-A
gnomAD v4: 17-7454645-T-A
MyVariant Identifiers: chr17:g.7357964T>A (hg19) chr17:g.7454645T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454645T>A , CM000679.2:g.7454645T>A GRCh38
NC_000017.10:g.7357964T>A , CM000679.1:g.7357964T>A GRCh37
NC_000017.9:g.7298688T>A NCBI36
NG_008026.1:g.14559T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+125T>A MANE Select ENSP00000304290.2:n.1044+125T>A
ENST00000306071.6:c.1044+125T>A ENSP00000304290.2:n.1044+125T>A
ENST00000536404.6:c.828+125T>A ENSP00000439209.2:n.828+125T>A
ENST00000570557.5:c.707+125T>A
ENST00000573209.1:n.1988+125T>A
ENST00000576360.1:c.681+125T>A ENSP00000459092.1:n.681+125T>A
NM_000747.2:c.1044+125T>A NP_000738.2:n.1044+125T>A
NM_000747.3:c.1044+125T>A MANE Select NP_000738.2:n.1044+125T>A
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