Canonical Allele Identifier: CA10649592
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 323961
ClinVar RCV Id: RCV000385127
dbSNP Id: rs144554248
gnomAD v2: 17-4801421-G-A
gnomAD v3: 17-4898126-G-A
gnomAD v4: 17-4898126-G-A
MyVariant Identifiers: chr17:g.4801421G>A (hg19) chr17:g.4898126G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898126G>A , CM000679.2:g.4898126G>A GRCh38
NC_000017.10:g.4801421G>A , CM000679.1:g.4801421G>A GRCh37
NC_000017.9:g.4742200G>A NCBI36
NG_008029.2:g.9950C>T
NG_028005.1:g.69787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*610C>T MANE Select ENSP00000497829.1:n.*610C>T
ENST00000649830.1:c.*728C>T ENSP00000496907.1:n.*728C>T
ENST00000652550.1:n.1818C>T
ENST00000293780.4:c.*610C>T ENSP00000293780.4:n.*610C>T
ENST00000572438.1:n.1778C>T
NM_000080.3:c.*610C>T NP_000071.1:n.*610C>T
NM_000080.4:c.*610C>T MANE Select NP_000071.1:n.*610C>T
XM_017024115.1:c.*610C>T XP_016879604.1:n.*610C>T
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