Canonical Allele Identifier: CA200888
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 193972
ClinVar RCV Id: RCV000174218 RCV000386633 RCV001549355
dbSNP Id: rs55806270
ExAC: 17:4802025 T / C
gnomAD v2: 17-4802025-T-C
gnomAD v3: 17-4898730-T-C
gnomAD v4: 17-4898730-T-C
MyVariant Identifiers: chr17:g.4802025T>C (hg19) chr17:g.4898730T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898730T>C , CM000679.2:g.4898730T>C GRCh38
NC_000017.10:g.4802025T>C , CM000679.1:g.4802025T>C GRCh37
NC_000017.9:g.4742804T>C NCBI36
NG_008029.2:g.9346A>G
NG_028005.1:g.70391T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*6A>G MANE Select ENSP00000497829.1:n.*6A>G
ENST00000649830.1:c.*124A>G ENSP00000496907.1:n.*124A>G
ENST00000652550.1:n.1214A>G
ENST00000293780.4:c.*6A>G ENSP00000293780.4:n.*6A>G
ENST00000572438.1:n.1174A>G
NM_000080.3:c.*6A>G NP_000071.1:n.*6A>G
NM_000080.4:c.*6A>G MANE Select NP_000071.1:n.*6A>G
XM_017024115.1:c.*6A>G XP_016879604.1:n.*6A>G
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