Canonical Allele Identifier: CA624855756
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1437247387
gnomAD v2: 17-4801990-T-A
gnomAD v4: 17-4898695-T-A
MyVariant Identifiers: chr17:g.4801990T>A (hg19) chr17:g.4898695T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898695T>A , CM000679.2:g.4898695T>A GRCh38
NC_000017.10:g.4801990T>A , CM000679.1:g.4801990T>A GRCh37
NC_000017.9:g.4742769T>A NCBI36
NG_008029.2:g.9381A>T
NG_028005.1:g.70356T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*41A>T MANE Select ENSP00000497829.1:n.*41A>T
ENST00000649830.1:c.*159A>T ENSP00000496907.1:n.*159A>T
ENST00000652550.1:n.1249A>T
ENST00000293780.4:c.*41A>T ENSP00000293780.4:n.*41A>T
ENST00000572438.1:n.1209A>T
NM_000080.3:c.*41A>T NP_000071.1:n.*41A>T
NM_000080.4:c.*41A>T MANE Select NP_000071.1:n.*41A>T
XM_017024115.1:c.*41A>T XP_016879604.1:n.*41A>T
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