Canonical Allele Identifier: CA980969773

Gene: CHRNE

Linked Data

• dbSNP Id: rs1969778661
• gnomAD v3: 17-4898152-G-GA
• gnomAD v4: 17-4898152-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898153dup , CM000679.2:g.4898153dup	GRCh38
NC_000017.10:g.4801448dup , CM000679.1:g.4801448dup	GRCh37
NC_000017.9:g.4742227dup	NCBI36
NG_008029.2:g.9923dup
NG_028005.1:g.69814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*583dup MANE Select	ENSP00000497829.1:n.*583dup
ENST00000649830.1:c.*701dup	ENSP00000496907.1:n.*701dup
ENST00000652550.1:n.1791dup
ENST00000293780.4:c.*583dup	ENSP00000293780.4:n.*583dup
ENST00000572438.1:n.1751dup
NM_000080.3:c.*583dup	NP_000071.1:n.*583dup
NM_000080.4:c.*583dup MANE Select	NP_000071.1:n.*583dup
XM_017024115.1:c.*583dup	XP_016879604.1:n.*583dup