Canonical Allele Identifier: CA2629790248

Gene: CHRNA5 CHRNA3

Linked Data

• gnomAD v4: 15-78593705-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78593705G>T , CM000677.2:g.78593705G>T	GRCh38
NC_000015.9:g.78886047G>T , CM000677.1:g.78886047G>T	GRCh37
NC_000015.8:g.76673102G>T	NCBI36
NG_016143.1:g.32591C>A
NG_023328.1:g.33186G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*452G>T (CHRNA5) MANE Select	ENSP00000299565.5:n.*452G>T
ENST00000348639.7:c.1390-514C>A (CHRNA3)	ENSP00000267951.4:n.1390-514C>A
ENST00000559002.5:n.194-514C>A (CHRNA3)
ENST00000559658.5:c.*162+209C>A (CHRNA3)	ENSP00000452896.1:n.*162+209C>A
NM_000745.3:c.*452G>T (CHRNA5)	NP_000736.2:n.*452G>T
NM_001166694.1:c.1390-514C>A (CHRNA3)	NP_001160166.1:n.1390-514C>A
NM_001307945.1:c.*589G>T (CHRNA5)	NP_001294874.1:n.*589G>T
NR_046313.1:n.2181+209C>A (CHRNA3)
NM_001166694.2:c.1390-514C>A (CHRNA3)	NP_001160166.1:n.1390-514C>A
NM_001307945.2:c.*589G>T (CHRNA5)	NP_001294874.1:n.*589G>T
NR_046313.2:n.1882+209C>A (CHRNA3)
NM_000745.4:c.*452G>T (CHRNA5) MANE Select	NP_000736.2:n.*452G>T
NM_001395171.1:c.*589G>T (CHRNA5)	NP_001382100.1:n.*589G>T
NM_001395172.1:c.*452G>T (CHRNA5)	NP_001382101.1:n.*452G>T
NM_001395173.1:c.*589G>T (CHRNA5)	NP_001382102.1:n.*589G>T
NM_001395174.1:c.*589G>T (CHRNA5)	NP_001382103.1:n.*589G>T
NM_001395175.1:c.*589G>T (CHRNA5)	NP_001382104.1:n.*589G>T