Canonical Allele Identifier: CA2635576134
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898133-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898133A>C , CM000679.2:g.4898133A>C GRCh38
NC_000017.10:g.4801428A>C , CM000679.1:g.4801428A>C GRCh37
NC_000017.9:g.4742207A>C NCBI36
NG_008029.2:g.9943T>G
NG_028005.1:g.69794A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*603T>G MANE Select ENSP00000497829.1:n.*603T>G
ENST00000649830.1:c.*721T>G ENSP00000496907.1:n.*721T>G
ENST00000652550.1:n.1811T>G
ENST00000293780.4:c.*603T>G ENSP00000293780.4:n.*603T>G
ENST00000572438.1:n.1771T>G
NM_000080.3:c.*603T>G NP_000071.1:n.*603T>G
NM_000080.4:c.*603T>G MANE Select NP_000071.1:n.*603T>G
XM_017024115.1:c.*603T>G XP_016879604.1:n.*603T>G
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