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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA8313854
Gene: CHRNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243031
ClinVar RCV Id:
RCV000020022
RCV000235026
RCV000516854
RCV000556621
RCV001169937
RCV001835737
RCV003338479
ClinVar Variation Id:
1322084
ClinVar RCV Id:
RCV001780504
dbSNP Id:
rs763258280
ExAC:
17:4802185 TC / T
gnomAD v2:
17-4802185-TC-T
gnomAD v3:
17-4898890-TC-T
gnomAD v4:
17-4898890-TC-T
MyVariant Identifiers:
chr17:g.4802186del (hg19)
chr17:g.4898891del (hg38)
PubMed:
PMID:9097970
PMID:9668239
PMID:10496269
PMID:10514102
PMID:10534268
PMID:15322984
PMID:15367858
PMID:20301347
PMID:27634344
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.4898892del , CM000679.2:g.4898892del
GRCh38
NC_000017.10:g.4802187del , CM000679.1:g.4802187del
GRCh37
NC_000017.9:g.4742966del
NCBI36
NG_008029.2:g.9185del
NG_028005.1:g.70553del
Transcript Alleles
HGVS
Amino-acid change
ENST00000649488.2:c.1327del
ENST00000649830.1:c.503del
ENSP00000496907.1:p.Gly168GlufsTer?
ENST00000652550.1:n.1057-4del
ENST00000293780.4:c.1327del
ENST00000572438.1:n.1013del
NM_000080.3:c.1327del
NM_000080.4:c.1327del
XM_017024115.1:c.1291del
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