Canonical Allele Identifier: CA497740616
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1597747178
gnomAD v4: 17-7445215-G-A
MyVariant Identifiers: chr17:g.7348534G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7445215G>A , CM000679.2:g.7445215G>A GRCh38
NC_000017.10:g.7348534G>A , CM000679.1:g.7348534G>A GRCh37
NC_000017.9:g.7289258G>A NCBI36
NG_008026.1:g.5129G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.58+30G>A MANE Select ENSP00000304290.2:n.58+30G>A
ENST00000306071.6:c.58+30G>A ENSP00000304290.2:n.58+30G>A
ENST00000572857.5:c.58+30G>A ENSP00000461402.1:n.58+30G>A
ENST00000574054.1:n.78+30G>A
NM_000747.2:c.58+30G>A NP_000738.2:n.58+30G>A
NM_000747.3:c.58+30G>A MANE Select NP_000738.2:n.58+30G>A
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