Canonical Allele Identifier: CA8313808
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1343761
ClinVar RCV Id: RCV001844778 RCV002543338
dbSNP Id: rs575920043
ExAC: 17:4802047 G / A
gnomAD v2: 17-4802047-G-A
gnomAD v3: 17-4898752-G-A
gnomAD v4: 17-4898752-G-A
MyVariant Identifiers: chr17:g.4802047G>A (hg19) chr17:g.4898752G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898752G>A , CM000679.2:g.4898752G>A GRCh38
NC_000017.10:g.4802047G>A , CM000679.1:g.4802047G>A GRCh37
NC_000017.9:g.4742826G>A NCBI36
NG_008029.2:g.9324C>T
NG_028005.1:g.70413G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1466C>T MANE Select ENSP00000497829.1:p.Pro489Leu
ENST00000649830.1:c.*102C>T ENSP00000496907.1:n.*102C>T
ENST00000652550.1:n.1192C>T
ENST00000293780.4:c.1466C>T ENSP00000293780.4:p.Pro489Leu
ENST00000572438.1:n.1152C>T
NM_000080.3:c.1466C>T NP_000071.1:p.Pro489Leu
NM_000080.4:c.1466C>T MANE Select NP_000071.1:p.Pro489Leu
XM_017024115.1:c.1430C>T XP_016879604.1:p.Pro477Leu
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