Canonical Allele Identifier: CA772622342

Gene: CHRNE

Linked Data

• dbSNP Id: rs1209757174
• MyVariant Identifiers: chr17:g.4801753_4801756del (hg19) ; chr17:g.4898458_4898461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898460_4898463del , CM000679.2:g.4898460_4898463del	GRCh38
NC_000017.10:g.4801755_4801758del , CM000679.1:g.4801755_4801758del	GRCh37
NC_000017.9:g.4742534_4742537del	NCBI36
NG_008029.2:g.9615_9618del
NG_028005.1:g.70121_70124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*275_*278del MANE Select	ENSP00000497829.1:n.*275_*278del
ENST00000649830.1:c.*393_*396del	ENSP00000496907.1:n.*393_*396del
ENST00000652550.1:n.1483_1486del
ENST00000293780.4:c.*275_*278del	ENSP00000293780.4:n.*275_*278del
ENST00000572438.1:n.1443_1446del
NM_000080.3:c.*275_*278del	NP_000071.1:n.*275_*278del
NM_000080.4:c.*275_*278del MANE Select	NP_000071.1:n.*275_*278del
XM_017024115.1:c.*275_*278del	XP_016879604.1:n.*275_*278del