Canonical Allele Identifier: CA8313824
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 254893
ClinVar RCV Id: RCV000242287 RCV000560221 RCV000371531
dbSNP Id: rs151193377
ExAC: 17:4802088 G / A
gnomAD v2: 17-4802088-G-A
gnomAD v3: 17-4898793-G-A
gnomAD v4: 17-4898793-G-A
MyVariant Identifiers: chr17:g.4802088G>A (hg19) chr17:g.4898793G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898793G>A , CM000679.2:g.4898793G>A GRCh38
NC_000017.10:g.4802088G>A , CM000679.1:g.4802088G>A GRCh37
NC_000017.9:g.4742867G>A NCBI36
NG_008029.2:g.9283C>T
NG_028005.1:g.70454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1425C>T MANE Select ENSP00000497829.1:p.Leu475=
ENST00000649830.1:c.*61C>T ENSP00000496907.1:n.*61C>T
ENST00000652550.1:n.1151C>T
ENST00000293780.4:c.1425C>T ENSP00000293780.4:p.Leu475=
ENST00000572438.1:n.1111C>T
NM_000080.3:c.1425C>T NP_000071.1:p.Leu475=
NM_000080.4:c.1425C>T MANE Select NP_000071.1:p.Leu475=
XM_017024115.1:c.1389C>T XP_016879604.1:p.Leu463=
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