Allele Registry

Canonical Allele Identifier: CA8313854

Gene: CHRNE HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.4898891del

GRCh37 chr17:g.4802186del

Linked Data - Sequence & Population

gnomAD v2:

17:4802185 TC / T

gnomAD v3:

17:4898890 TC / T

gnomAD v4:

chr17-4898890-TC-T

Joint Max Group AF 0.00059366 (SAS)

Exomes Max Group AF 0.00062835 (SAS)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000020022

RCV000235026

RCV000516854

RCV000556621

RCV001169937

RCV001780504

RCV001835737

RCV003338479

ClinVar Variation:

243031

1322084

dbSNP:

763258280

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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