Canonical Allele Identifier: CA371102594
Gene: CHRNB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732545G>A , CM000670.2:g.42732545G>A GRCh38
NC_000008.10:g.42587688G>A , CM000670.1:g.42587688G>A GRCh37
NC_000008.9:g.42706845G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1238G>A MANE Select ENSP00000289957.2:p.Ser413Asn
ENST00000289957.2:c.1238G>A ENSP00000289957.2:p.Ser413Asn
NM_000749.3:c.1238G>A NP_000740.1:p.Ser413Asn
XM_011544390.1:c.851G>A XP_011542692.1:p.Ser284Asn
NM_000749.4:c.1238G>A NP_000740.1:p.Ser413Asn
NM_001347717.1:c.1016G>A NP_001334646.1:p.Ser339Asn
XM_011544390.2:c.851G>A XP_011542692.1:p.Ser284Asn
NM_000749.5:c.1238G>A MANE Select NP_000740.1:p.Ser413Asn
NM_001347717.2:c.1016G>A NP_001334646.1:p.Ser339Asn