Canonical Allele Identifier: CA980969726

Gene: CHRNE

Linked Data

• gnomAD v3: 17-4898120-A-AGGGTGGGGAAGAAAG
• gnomAD v4: 17-4898120-A-AGGGTGGGGAAGAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898124_4898138dup , CM000679.2:g.4898124_4898138dup	GRCh38
NC_000017.10:g.4801419_4801433dup , CM000679.1:g.4801419_4801433dup	GRCh37
NC_000017.9:g.4742198_4742212dup	NCBI36
NG_008029.2:g.9941_9955dup
NG_028005.1:g.69785_69799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*601_*615dup MANE Select	ENSP00000497829.1:n.*601_*615dup
ENST00000649830.1:c.*719_*733dup	ENSP00000496907.1:n.*719_*733dup
ENST00000652550.1:n.1809_1823dup
ENST00000293780.4:c.*601_*615dup	ENSP00000293780.4:n.*601_*615dup
ENST00000572438.1:n.1769_1783dup
NM_000080.3:c.*601_*615dup	NP_000071.1:n.*601_*615dup
NM_000080.4:c.*601_*615dup MANE Select	NP_000071.1:n.*601_*615dup
XM_017024115.1:c.*601_*615dup	XP_016879604.1:n.*601_*615dup