Canonical Allele Identifier: CA624855753
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1201716200
gnomAD v2: 17-4801977-T-G
gnomAD v3: 17-4898682-T-G
gnomAD v4: 17-4898682-T-G
MyVariant Identifiers: chr17:g.4801977T>G (hg19) chr17:g.4898682T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898682T>G , CM000679.2:g.4898682T>G GRCh38
NC_000017.10:g.4801977T>G , CM000679.1:g.4801977T>G GRCh37
NC_000017.9:g.4742756T>G NCBI36
NG_008029.2:g.9394A>C
NG_028005.1:g.70343T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*54A>C MANE Select ENSP00000497829.1:n.*54A>C
ENST00000649830.1:c.*172A>C ENSP00000496907.1:n.*172A>C
ENST00000652550.1:n.1262A>C
ENST00000293780.4:c.*54A>C ENSP00000293780.4:n.*54A>C
ENST00000572438.1:n.1222A>C
NM_000080.3:c.*54A>C NP_000071.1:n.*54A>C
NM_000080.4:c.*54A>C MANE Select NP_000071.1:n.*54A>C
XM_017024115.1:c.*54A>C XP_016879604.1:n.*54A>C
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