Canonical Allele Identifier: CA497675823
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2765245
ClinVar RCV Id: RCV003526474
dbSNP Id: rs1969819934
gnomAD v3: 17-4898790-C-A
gnomAD v4: 17-4898790-C-A
MyVariant Identifiers: chr17:g.4802085C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898790C>A , CM000679.2:g.4898790C>A GRCh38
NC_000017.10:g.4802085C>A , CM000679.1:g.4802085C>A GRCh37
NC_000017.9:g.4742864C>A NCBI36
NG_008029.2:g.9286G>T
NG_028005.1:g.70451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1428G>T MANE Select ENSP00000497829.1:p.Gly476=
ENST00000649830.1:c.*64G>T ENSP00000496907.1:n.*64G>T
ENST00000652550.1:n.1154G>T
ENST00000293780.4:c.1428G>T ENSP00000293780.4:p.Gly476=
ENST00000572438.1:n.1114G>T
NM_000080.3:c.1428G>T NP_000071.1:p.Gly476=
NM_000080.4:c.1428G>T MANE Select NP_000071.1:p.Gly476=
XM_017024115.1:c.1392G>T XP_016879604.1:p.Gly464=
Search 100 bp 5'
Search 100 bp 3'