Canonical Allele Identifier: CA8313842
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 243032
ClinVar RCV Id: RCV000020024 RCV000235035 RCV000479377 RCV000804085 RCV001836761 RCV002250605
dbSNP Id: rs773526895
ExAC: 17:4802159 T / TC
gnomAD v2: 17-4802159-T-TC
gnomAD v3: 17-4898864-T-TC
gnomAD v4: 17-4898864-T-TC
MyVariant Identifiers: chr17:g.4802160dupC (hg19) chr17:g.4802159_4802160insC (hg19) chr17:g.4898865dupC (hg38) chr17:g.4898864_4898865insC (hg38)
PubMed: PMID:8957026 PMID:15951177 PMID:19064877 PMID:20301347
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898868dup , CM000679.2:g.4898868dup GRCh38
NC_000017.10:g.4802163dup , CM000679.1:g.4802163dup GRCh37
NC_000017.9:g.4742942dup NCBI36
NG_008029.2:g.9211dup
NG_028005.1:g.70529dup

Transcript Alleles

HGVS Amino-acid change
ENST00000649488.2:c.1353dup MANE Select ENSP00000497829.1:p.Asn452GlufsTer4
ENST00000649830.1:c.529dup ENSP00000496907.1:p.Glu177GlyfsTer?
ENST00000652550.1:n.1079dup
ENST00000293780.4:c.1353dup ENSP00000293780.4:p.Asn452GlufsTer4
ENST00000572438.1:n.1039dup
NM_000080.3:c.1353dup NP_000071.1:p.Asn452GlufsTer4
NM_000080.4:c.1353dup MANE Select NP_000071.1:p.Asn452GlufsTer4
XM_017024115.1:c.1317dup XP_016879604.1:p.Asn440GlufsTer4
Search 100 bp 5'
Search 100 bp 3'