Canonical Allele Identifier: CA8313827
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs757902679
ExAC: 17:4802096 T / G
gnomAD v2: 17-4802096-T-G
gnomAD v3: 17-4898801-T-G
gnomAD v4: 17-4898801-T-G
MyVariant Identifiers: chr17:g.4802096T>G (hg19) chr17:g.4898801T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898801T>G , CM000679.2:g.4898801T>G GRCh38
NC_000017.10:g.4802096T>G , CM000679.1:g.4802096T>G GRCh37
NC_000017.9:g.4742875T>G NCBI36
NG_008029.2:g.9275A>C
NG_028005.1:g.70462T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1417A>C MANE Select ENSP00000497829.1:p.Ile473Leu
ENST00000649830.1:c.*53A>C ENSP00000496907.1:n.*53A>C
ENST00000652550.1:n.1143A>C
ENST00000293780.4:c.1417A>C ENSP00000293780.4:p.Ile473Leu
ENST00000572438.1:n.1103A>C
NM_000080.3:c.1417A>C NP_000071.1:p.Ile473Leu
NM_000080.4:c.1417A>C MANE Select NP_000071.1:p.Ile473Leu
XM_017024115.1:c.1381A>C XP_016879604.1:p.Ile461Leu
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