Canonical Allele Identifier: CA287432057
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1029247916
gnomAD v2: 17-7358676-C-T
gnomAD v3: 17-7455357-C-T
gnomAD v4: 17-7455357-C-T
MyVariant Identifiers: chr17:g.7358676C>T (hg19) chr17:g.7455357C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455357C>T , CM000679.2:g.7455357C>T GRCh38
NC_000017.10:g.7358676C>T , CM000679.1:g.7358676C>T GRCh37
NC_000017.9:g.7299400C>T NCBI36
NG_008026.1:g.15271C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1118C>T MANE Select ENSP00000304290.2:p.Pro373Leu
ENST00000306071.6:c.1118C>T ENSP00000304290.2:p.Pro373Leu
ENST00000536404.6:c.902C>T ENSP00000439209.2:p.Pro301Leu
ENST00000570557.5:c.781C>T
ENST00000573209.1:n.2062C>T
ENST00000576360.1:c.755C>T ENSP00000459092.1:p.Pro252Leu
NM_000747.2:c.1118C>T NP_000738.2:p.Pro373Leu
NM_000747.3:c.1118C>T MANE Select NP_000738.2:p.Pro373Leu
Search 100 bp 5'
Search 100 bp 3'