Canonical Allele Identifier: CA2244610159
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969805479
gnomAD v4: 17-4898534-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898534G>A , CM000679.2:g.4898534G>A GRCh38
NC_000017.10:g.4801829G>A , CM000679.1:g.4801829G>A GRCh37
NC_000017.9:g.4742608G>A NCBI36
NG_008029.2:g.9542C>T
NG_028005.1:g.70195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*202C>T MANE Select ENSP00000497829.1:n.*202C>T
ENST00000649830.1:c.*320C>T ENSP00000496907.1:n.*320C>T
ENST00000652550.1:n.1410C>T
ENST00000293780.4:c.*202C>T ENSP00000293780.4:n.*202C>T
ENST00000572438.1:n.1370C>T
NM_000080.3:c.*202C>T NP_000071.1:n.*202C>T
NM_000080.4:c.*202C>T MANE Select NP_000071.1:n.*202C>T
XM_017024115.1:c.*202C>T XP_016879604.1:n.*202C>T
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