Canonical Allele Identifier: CA497675820
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898787-G-T
MyVariant Identifiers: chr17:g.4802082G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898787G>T , CM000679.2:g.4898787G>T GRCh38
NC_000017.10:g.4802082G>T , CM000679.1:g.4802082G>T GRCh37
NC_000017.9:g.4742861G>T NCBI36
NG_008029.2:g.9289C>A
NG_028005.1:g.70448G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1431C>A MANE Select ENSP00000497829.1:p.Ala477=
ENST00000649830.1:c.*67C>A ENSP00000496907.1:n.*67C>A
ENST00000652550.1:n.1157C>A
ENST00000293780.4:c.1431C>A ENSP00000293780.4:p.Ala477=
ENST00000572438.1:n.1117C>A
NM_000080.3:c.1431C>A NP_000071.1:p.Ala477=
NM_000080.4:c.1431C>A MANE Select NP_000071.1:p.Ala477=
XM_017024115.1:c.1395C>A XP_016879604.1:p.Ala465=
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