Canonical Allele Identifier: CA397297254
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 918072
ClinVar RCV Id: RCV001175330
dbSNP Id: rs1969817843
gnomAD v4: 17-4898761-G-A
MyVariant Identifiers: chr17:g.4802056G>A (hg19) chr17:g.4898761G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898761G>A , CM000679.2:g.4898761G>A GRCh38
NC_000017.10:g.4802056G>A , CM000679.1:g.4802056G>A GRCh37
NC_000017.9:g.4742835G>A NCBI36
NG_008029.2:g.9315C>T
NG_028005.1:g.70422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1457C>T MANE Select ENSP00000497829.1:p.Pro486Leu
ENST00000649830.1:c.*93C>T ENSP00000496907.1:n.*93C>T
ENST00000652550.1:n.1183C>T
ENST00000293780.4:c.1457C>T ENSP00000293780.4:p.Pro486Leu
ENST00000572438.1:n.1143C>T
NM_000080.3:c.1457C>T NP_000071.1:p.Pro486Leu
NM_000080.4:c.1457C>T MANE Select NP_000071.1:p.Pro486Leu
XM_017024115.1:c.1421C>T XP_016879604.1:p.Pro474Leu
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