Canonical Allele Identifier: CA16620462
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 421400
ClinVar RCV Id: RCV000487143
dbSNP Id: rs750097789
MyVariant Identifiers: chr17:g.4802094G>C (hg19) chr17:g.4898799G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898799G>C , CM000679.2:g.4898799G>C GRCh38
NC_000017.10:g.4802094G>C , CM000679.1:g.4802094G>C GRCh37
NC_000017.9:g.4742873G>C NCBI36
NG_008029.2:g.9277C>G
NG_028005.1:g.70460G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1419C>G MANE Select ENSP00000497829.1:p.Ile473Met
ENST00000649830.1:c.*55C>G ENSP00000496907.1:n.*55C>G
ENST00000652550.1:n.1145C>G
ENST00000293780.4:c.1419C>G ENSP00000293780.4:p.Ile473Met
ENST00000572438.1:n.1105C>G
NM_000080.3:c.1419C>G NP_000071.1:p.Ile473Met
NM_000080.4:c.1419C>G MANE Select NP_000071.1:p.Ile473Met
XM_017024115.1:c.1383C>G XP_016879604.1:p.Ile461Met
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