Canonical Allele Identifier: CA397297322
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802068A>C (hg19) chr17:g.4898773A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898773A>C , CM000679.2:g.4898773A>C GRCh38
NC_000017.10:g.4802068A>C , CM000679.1:g.4802068A>C GRCh37
NC_000017.9:g.4742847A>C NCBI36
NG_008029.2:g.9303T>G
NG_028005.1:g.70434A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1445T>G MANE Select ENSP00000497829.1:p.Val482Gly
ENST00000649830.1:c.*81T>G ENSP00000496907.1:n.*81T>G
ENST00000652550.1:n.1171T>G
ENST00000293780.4:c.1445T>G ENSP00000293780.4:p.Val482Gly
ENST00000572438.1:n.1131T>G
NM_000080.3:c.1445T>G NP_000071.1:p.Val482Gly
NM_000080.4:c.1445T>G MANE Select NP_000071.1:p.Val482Gly
XM_017024115.1:c.1409T>G XP_016879604.1:p.Val470Gly
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