Canonical Allele Identifier: CA397297149
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898738-A-C
MyVariant Identifiers: chr17:g.4802033A>C (hg19) chr17:g.4898738A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898738A>C , CM000679.2:g.4898738A>C GRCh38
NC_000017.10:g.4802033A>C , CM000679.1:g.4802033A>C GRCh37
NC_000017.9:g.4742812A>C NCBI36
NG_008029.2:g.9338T>G
NG_028005.1:g.70399A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1480T>G MANE Select ENSP00000497829.1:p.Ter494Glu
ENST00000649830.1:c.*116T>G ENSP00000496907.1:n.*116T>G
ENST00000652550.1:n.1206T>G
ENST00000293780.4:c.1480T>G ENSP00000293780.4:p.Ter494Glu
ENST00000572438.1:n.1166T>G
NM_000080.3:c.1480T>G NP_000071.1:p.Ter494Glu
NM_000080.4:c.1480T>G MANE Select NP_000071.1:p.Ter494Glu
XM_017024115.1:c.1444T>G XP_016879604.1:p.Ter482Glu
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