Canonical Allele Identifier: CA980970018
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1567635115
gnomAD v3: 17-4898632-T-G
gnomAD v4: 17-4898632-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898632T>G , CM000679.2:g.4898632T>G GRCh38
NC_000017.10:g.4801927T>G , CM000679.1:g.4801927T>G GRCh37
NC_000017.9:g.4742706T>G NCBI36
NG_008029.2:g.9444A>C
NG_028005.1:g.70293T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*104A>C MANE Select ENSP00000497829.1:n.*104A>C
ENST00000649830.1:c.*222A>C ENSP00000496907.1:n.*222A>C
ENST00000652550.1:n.1312A>C
ENST00000293780.4:c.*104A>C ENSP00000293780.4:n.*104A>C
ENST00000572438.1:n.1272A>C
NM_000080.3:c.*104A>C NP_000071.1:n.*104A>C
NM_000080.4:c.*104A>C MANE Select NP_000071.1:n.*104A>C
XM_017024115.1:c.*104A>C XP_016879604.1:n.*104A>C
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