Canonical Allele Identifier: CA152391
Gene: CHRNB1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7447656T>C
GRCh37 chr17:g.7350975T>C
gnomAD v2:
17:7350975 T / C
gnomAD v3:
17:7447656 T / C
gnomAD v4:
chr17-7447656-T-C
Joint Max Group AF 0.21367271 (SAS)
Genomes Max Group AF 0.2049343 (SAS)
Exomes Max Group AF 0.21362411 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7447656T>C , CM000679.2:g.7447656T>C GRCh38
NC_000017.10:g.7350975T>C , CM000679.1:g.7350975T>C GRCh37
NC_000017.9:g.7291699T>C NCBI36
NG_008026.1:g.7570T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.610+6T>C MANE Select ENSP00000304290.2:n.610+6T>C
ENST00000306071.6:c.610+6T>C ENSP00000304290.2:n.610+6T>C
ENST00000536404.6:c.394+6T>C ENSP00000439209.2:n.394+6T>C
ENST00000570557.5:c.483+6T>C
ENST00000573209.1:n.1554+6T>C
ENST00000576360.1:c.394+6T>C ENSP00000459092.1:n.394+6T>C
NM_000747.2:c.610+6T>C NP_000738.2:n.610+6T>C
NM_000747.3:c.610+6T>C MANE Select NP_000738.2:n.610+6T>C
Search 100 bp 5'
Search 100 bp 3'