Canonical Allele Identifier: CA8347952
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs758930059
ExAC: 17:7357887 T / C
gnomAD v2: 17-7357887-T-C
gnomAD v3: 17-7454568-T-C
gnomAD v4: 17-7454568-T-C
MyVariant Identifiers: chr17:g.7357887T>C (hg19) chr17:g.7454568T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454568T>C , CM000679.2:g.7454568T>C GRCh38
NC_000017.10:g.7357887T>C , CM000679.1:g.7357887T>C GRCh37
NC_000017.9:g.7298611T>C NCBI36
NG_008026.1:g.14482T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+48T>C MANE Select ENSP00000304290.2:n.1044+48T>C
ENST00000306071.6:c.1044+48T>C ENSP00000304290.2:n.1044+48T>C
ENST00000536404.6:c.828+48T>C ENSP00000439209.2:n.828+48T>C
ENST00000570557.5:c.707+48T>C
ENST00000573209.1:n.1988+48T>C
ENST00000576360.1:c.681+48T>C ENSP00000459092.1:n.681+48T>C
NM_000747.2:c.1044+48T>C NP_000738.2:n.1044+48T>C
NM_000747.3:c.1044+48T>C MANE Select NP_000738.2:n.1044+48T>C
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