Canonical Allele Identifier: CA16620603
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422524
dbSNP Id: rs1064795835
gnomAD v4: 17-7445128-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7445128A>G , CM000679.2:g.7445128A>G GRCh38
NC_000017.10:g.7348447A>G , CM000679.1:g.7348447A>G GRCh37
NC_000017.9:g.7289171A>G NCBI36
NG_008026.1:g.5042A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1A>G MANE Select ENSP00000304290.2:p.Met1Val
ENST00000306071.6:c.1A>G ENSP00000304290.2:p.Met1Val
ENST00000572857.5:c.1A>G ENSP00000461402.1:p.Met1Val
ENST00000574054.1:n.21A>G
NM_000747.2:c.1A>G NP_000738.2:p.Met1Val
NM_000747.3:c.1A>G MANE Select NP_000738.2:p.Met1Val