Canonical Allele Identifier: CA2635577136

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898562-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898563del , CM000679.2:g.4898563del	GRCh38
NC_000017.10:g.4801858del , CM000679.1:g.4801858del	GRCh37
NC_000017.9:g.4742637del	NCBI36
NG_008029.2:g.9513del
NG_028005.1:g.70224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*173del MANE Select	ENSP00000497829.1:n.*173del
ENST00000649830.1:c.*291del	ENSP00000496907.1:n.*291del
ENST00000652550.1:n.1381del
ENST00000293780.4:c.*173del	ENSP00000293780.4:n.*173del
ENST00000572438.1:n.1341del
NM_000080.3:c.*173del	NP_000071.1:n.*173del
NM_000080.4:c.*173del MANE Select	NP_000071.1:n.*173del
XM_017024115.1:c.*173del	XP_016879604.1:n.*173del