Canonical Allele Identifier: CA980970060
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969811668
gnomAD v3: 17-4898679-A-G
gnomAD v4: 17-4898679-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898679A>G , CM000679.2:g.4898679A>G GRCh38
NC_000017.10:g.4801974A>G , CM000679.1:g.4801974A>G GRCh37
NC_000017.9:g.4742753A>G NCBI36
NG_008029.2:g.9397T>C
NG_028005.1:g.70340A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*57T>C MANE Select ENSP00000497829.1:n.*57T>C
ENST00000649830.1:c.*175T>C ENSP00000496907.1:n.*175T>C
ENST00000652550.1:n.1265T>C
ENST00000293780.4:c.*57T>C ENSP00000293780.4:n.*57T>C
ENST00000572438.1:n.1225T>C
NM_000080.3:c.*57T>C NP_000071.1:n.*57T>C
NM_000080.4:c.*57T>C MANE Select NP_000071.1:n.*57T>C
XM_017024115.1:c.*57T>C XP_016879604.1:n.*57T>C
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