Canonical Allele Identifier: CA287178677
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 890946
ClinVar RCV Id: RCV001125937
dbSNP Id: rs371649855
gnomAD v2: 17-4802007-G-A
gnomAD v4: 17-4898712-G-A
MyVariant Identifiers: chr17:g.4802007G>A (hg19) chr17:g.4898712G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898712G>A , CM000679.2:g.4898712G>A GRCh38
NC_000017.10:g.4802007G>A , CM000679.1:g.4802007G>A GRCh37
NC_000017.9:g.4742786G>A NCBI36
NG_008029.2:g.9364C>T
NG_028005.1:g.70373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*24C>T MANE Select ENSP00000497829.1:n.*24C>T
ENST00000649830.1:c.*142C>T ENSP00000496907.1:n.*142C>T
ENST00000652550.1:n.1232C>T
ENST00000293780.4:c.*24C>T ENSP00000293780.4:n.*24C>T
ENST00000572438.1:n.1192C>T
NM_000080.3:c.*24C>T NP_000071.1:n.*24C>T
NM_000080.4:c.*24C>T MANE Select NP_000071.1:n.*24C>T
XM_017024115.1:c.*24C>T XP_016879604.1:n.*24C>T
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