Canonical Allele Identifier: CA397297349
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898778-G-C
MyVariant Identifiers: chr17:g.4802073G>C (hg19) chr17:g.4898778G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898778G>C , CM000679.2:g.4898778G>C GRCh38
NC_000017.10:g.4802073G>C , CM000679.1:g.4802073G>C GRCh37
NC_000017.9:g.4742852G>C NCBI36
NG_008029.2:g.9298C>G
NG_028005.1:g.70439G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1440C>G MANE Select ENSP00000497829.1:p.Asn480Lys
ENST00000649830.1:c.*76C>G ENSP00000496907.1:n.*76C>G
ENST00000652550.1:n.1166C>G
ENST00000293780.4:c.1440C>G ENSP00000293780.4:p.Asn480Lys
ENST00000572438.1:n.1126C>G
NM_000080.3:c.1440C>G NP_000071.1:p.Asn480Lys
NM_000080.4:c.1440C>G MANE Select NP_000071.1:p.Asn480Lys
XM_017024115.1:c.1404C>G XP_016879604.1:p.Asn468Lys
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