Canonical Allele Identifier: CA8313825
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 970439
ClinVar RCV Id: RCV001246010 RCV001835254 RCV004548098
dbSNP Id: rs764935677
ExAC: 17:4802089 A / T
gnomAD v2: 17-4802089-A-T
gnomAD v4: 17-4898794-A-T
MyVariant Identifiers: chr17:g.4802089A>T (hg19) chr17:g.4898794A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898794A>T , CM000679.2:g.4898794A>T GRCh38
NC_000017.10:g.4802089A>T , CM000679.1:g.4802089A>T GRCh37
NC_000017.9:g.4742868A>T NCBI36
NG_008029.2:g.9282T>A
NG_028005.1:g.70455A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1424T>A MANE Select ENSP00000497829.1:p.Leu475His
ENST00000649830.1:c.*60T>A ENSP00000496907.1:n.*60T>A
ENST00000652550.1:n.1150T>A
ENST00000293780.4:c.1424T>A ENSP00000293780.4:p.Leu475His
ENST00000572438.1:n.1110T>A
NM_000080.3:c.1424T>A NP_000071.1:p.Leu475His
NM_000080.4:c.1424T>A MANE Select NP_000071.1:p.Leu475His
XM_017024115.1:c.1388T>A XP_016879604.1:p.Leu463His
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