Canonical Allele Identifier: CA8313790

Gene: CHRNE

Linked Data

• ClinVar Variation Id: 2440058
• ClinVar RCV Id: RCV003144958
• dbSNP Id: rs781409523
• ExAC: 17:4801999 GGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA / G
• gnomAD v2: 17-4801999-GGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA-G
• gnomAD v3: 17-4898704-GGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA-G
• gnomAD v4: 17-4898704-GGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTA-G
• MyVariant Identifiers: chr17:g.4802000_4802033del (hg19) ; chr17:g.4898705_4898738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898705_4898738del , CM000679.2:g.4898705_4898738del	GRCh38
NC_000017.10:g.4802000_4802033del , CM000679.1:g.4802000_4802033del	GRCh37
NC_000017.9:g.4742779_4742812del	NCBI36
NG_008029.2:g.9338_9371del
NG_028005.1:g.70366_70399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1480_*31del MANE Select	ENSP00000497829.1:n.[c.1480_*31del;Ter494GlnextTer2]
ENST00000649830.1:c.*116_*149del	ENSP00000496907.1:n.*116_*149del
ENST00000652550.1:n.1206_1239del
ENST00000293780.4:c.1480_*31del	ENSP00000293780.4:n.[c.1480_*31del;Ter494GlnextTer2]
ENST00000572438.1:n.1166_1199del
NM_000080.3:c.1480_*31del	NP_000071.1:n.[c.1480_*31del;Ter494GlnextTer2]
NM_000080.4:c.1480_*31del MANE Select	NP_000071.1:n.[c.1480_*31del;Ter494GlnextTer2]
XM_017024115.1:c.1444_*31del	XP_016879604.1:n.[c.1444_*31del;Ter482GlnextTer2]