Canonical Allele Identifier: CA2804872054

Gene: CHRNA5 CHRNA3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78593770G>C , CM000677.2:g.78593770G>C	GRCh38
NC_000015.9:g.78886112G>C , CM000677.1:g.78886112G>C	GRCh37
NC_000015.8:g.76673167G>C	NCBI36
NG_016143.1:g.32526C>G
NG_023328.1:g.33251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*517G>C (CHRNA5) MANE Select	ENSP00000299565.5:n.*517G>C
ENST00000348639.7:c.1390-579C>G (CHRNA3)	ENSP00000267951.4:n.1390-579C>G
ENST00000559002.5:n.194-579C>G (CHRNA3)
ENST00000559658.5:c.*162+144C>G (CHRNA3)	ENSP00000452896.1:n.*162+144C>G
NM_000745.3:c.*517G>C (CHRNA5)	NP_000736.2:n.*517G>C
NM_001166694.1:c.1390-579C>G (CHRNA3)	NP_001160166.1:n.1390-579C>G
NM_001307945.1:c.*654G>C (CHRNA5)	NP_001294874.1:n.*654G>C
NR_046313.1:n.2181+144C>G (CHRNA3)
NM_001166694.2:c.1390-579C>G (CHRNA3)	NP_001160166.1:n.1390-579C>G
NM_001307945.2:c.*654G>C (CHRNA5)	NP_001294874.1:n.*654G>C
NR_046313.2:n.1882+144C>G (CHRNA3)
NM_000745.4:c.*517G>C (CHRNA5) MANE Select	NP_000736.2:n.*517G>C
NM_001395171.1:c.*654G>C (CHRNA5)	NP_001382100.1:n.*654G>C
NM_001395172.1:c.*517G>C (CHRNA5)	NP_001382101.1:n.*517G>C
NM_001395173.1:c.*654G>C (CHRNA5)	NP_001382102.1:n.*654G>C
NM_001395174.1:c.*654G>C (CHRNA5)	NP_001382103.1:n.*654G>C
NM_001395175.1:c.*654G>C (CHRNA5)	NP_001382104.1:n.*654G>C