Canonical Allele Identifier: CA7684415

Gene: CHRNA3

Linked Data

• dbSNP Id: rs763640173
• ExAC: 15:78894281 GCGAGTATGTGATGT / G
• gnomAD v2: 15-78894281-GCGAGTATGTGATGT-G
• gnomAD v3: 15-78601939-GCGAGTATGTGATGT-G
• gnomAD v4: 15-78601939-GCGAGTATGTGATGT-G
• MyVariant Identifiers: chr15:g.78894282_78894295del (hg19) ; chr15:g.78601940_78601953del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601942_78601955del , CM000677.2:g.78601942_78601955del	GRCh38
NC_000015.9:g.78894284_78894297del , CM000677.1:g.78894284_78894297del	GRCh37
NC_000015.8:g.76681339_76681352del	NCBI36
NG_016143.1:g.24343_24356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.689_702del MANE Select	ENSP00000315602.5:p.Asp230AlafsTer?
ENST00000326828.5:c.689_702del	ENSP00000315602.5:p.Asp230AlafsTer?
ENST00000348639.7:c.689_702del	ENSP00000267951.4:p.Asp230AlafsTer?
ENST00000558903.1:n.396_409del
ENST00000559658.5:c.689_702del	ENSP00000452896.1:p.Asp230AlafsTer?
NM_000743.4:c.689_702del	NP_000734.2:p.Asp230AlafsTer?
NM_001166694.1:c.689_702del	NP_001160166.1:p.Asp230AlafsTer?
NR_046313.1:n.1190_1203del
XM_006720382.1:c.488_501del	XP_006720445.1:p.Asp163AlafsTer?
XM_011521173.1:c.608_621del	XP_011519475.1:p.Asp203AlafsTer?
XM_006720382.3:c.488_501del	XP_006720445.1:p.Asp163AlafsTer?
NM_000743.5:c.689_702del MANE Select	NP_000734.2:p.Asp230AlafsTer?
NM_001166694.2:c.689_702del	NP_001160166.1:p.Asp230AlafsTer?
NR_046313.2:n.891_904del