Canonical Allele Identifier: CA8314047
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1119352
ClinVar RCV Id: RCV001448768
dbSNP Id: rs764991750
ExAC: 17:4802687 A / AGGGGCGGGGCTTAG
gnomAD v2: 17-4802687-A-AGGGGCGGGGCTTAG
gnomAD v3: 17-4899392-A-AGGGGCGGGGCTTAG
gnomAD v4: 17-4899392-A-AGGGGCGGGGCTTAG
MyVariant Identifiers: chr17:g.4802687_4802688insGGGGCGGGGCTTAG (hg19) chr17:g.4899392_4899393insGGGGCGGGGCTTAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899396_4899409dup , CM000679.2:g.4899396_4899409dup GRCh38
NC_000017.10:g.4802691_4802704dup , CM000679.1:g.4802691_4802704dup GRCh37
NC_000017.9:g.4743470_4743483dup NCBI36
NG_008029.2:g.8670_8683dup
NG_028005.1:g.71057_71070dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1033-22_1033-9dup MANE Select ENSP00000497829.1:n.1033-22_1033-9dup
ENST00000649830.1:c.100-22_100-9dup ENSP00000496907.1:n.100-22_100-9dup
ENST00000652550.1:n.763-22_763-9dup
ENST00000293780.4:c.1033-22_1033-9dup ENSP00000293780.4:n.1033-22_1033-9dup
ENST00000572438.1:n.719-22_719-9dup
NM_000080.3:c.1033-22_1033-9dup NP_000071.1:n.1033-22_1033-9dup
NM_000080.4:c.1033-22_1033-9dup MANE Select NP_000071.1:n.1033-22_1033-9dup
XM_017024115.1:c.997-22_997-9dup XP_016879604.1:n.997-22_997-9dup
XR_001752421.1:n.1763-22_1763-9dup
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Search 100 bp 3'