Canonical Allele Identifier: CA2635577379

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898680-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898685dup , CM000679.2:g.4898685dup	GRCh38
NC_000017.10:g.4801980dup , CM000679.1:g.4801980dup	GRCh37
NC_000017.9:g.4742759dup	NCBI36
NG_008029.2:g.9395dup
NG_028005.1:g.70346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*55dup MANE Select	ENSP00000497829.1:n.*55dup
ENST00000649830.1:c.*173dup	ENSP00000496907.1:n.*173dup
ENST00000652550.1:n.1263dup
ENST00000293780.4:c.*55dup	ENSP00000293780.4:n.*55dup
ENST00000572438.1:n.1223dup
NM_000080.3:c.*55dup	NP_000071.1:n.*55dup
NM_000080.4:c.*55dup MANE Select	NP_000071.1:n.*55dup
XM_017024115.1:c.*55dup	XP_016879604.1:n.*55dup