Canonical Allele Identifier: CA624619729
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1189175877
gnomAD v2: 17-4801804-G-A
gnomAD v3: 17-4898509-G-A
gnomAD v4: 17-4898509-G-A
MyVariant Identifiers: chr17:g.4801804G>A (hg19) chr17:g.4898509G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898509G>A , CM000679.2:g.4898509G>A GRCh38
NC_000017.10:g.4801804G>A , CM000679.1:g.4801804G>A GRCh37
NC_000017.9:g.4742583G>A NCBI36
NG_008029.2:g.9567C>T
NG_028005.1:g.70170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*227C>T MANE Select ENSP00000497829.1:n.*227C>T
ENST00000649830.1:c.*345C>T ENSP00000496907.1:n.*345C>T
ENST00000652550.1:n.1435C>T
ENST00000293780.4:c.*227C>T ENSP00000293780.4:n.*227C>T
ENST00000572438.1:n.1395C>T
NM_000080.3:c.*227C>T NP_000071.1:n.*227C>T
NM_000080.4:c.*227C>T MANE Select NP_000071.1:n.*227C>T
XM_017024115.1:c.*227C>T XP_016879604.1:n.*227C>T
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