Canonical Allele Identifier: CA8313828
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 254892
ClinVar RCV Id: RCV000641749 RCV001128042 RCV004547627
dbSNP Id: rs145456588
ExAC: 17:4802097 G / A
gnomAD v2: 17-4802097-G-A
gnomAD v3: 17-4898802-G-A
gnomAD v4: 17-4898802-G-A
MyVariant Identifiers: chr17:g.4802097G>A (hg19) chr17:g.4898802G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898802G>A , CM000679.2:g.4898802G>A GRCh38
NC_000017.10:g.4802097G>A , CM000679.1:g.4802097G>A GRCh37
NC_000017.9:g.4742876G>A NCBI36
NG_008029.2:g.9274C>T
NG_028005.1:g.70463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1416C>T MANE Select ENSP00000497829.1:p.Leu472=
ENST00000649830.1:c.*52C>T ENSP00000496907.1:n.*52C>T
ENST00000652550.1:n.1142C>T
ENST00000293780.4:c.1416C>T ENSP00000293780.4:p.Leu472=
ENST00000572438.1:n.1102C>T
NM_000080.3:c.1416C>T NP_000071.1:p.Leu472=
NM_000080.4:c.1416C>T MANE Select NP_000071.1:p.Leu472=
XM_017024115.1:c.1380C>T XP_016879604.1:p.Leu460=
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