Canonical Allele Identifier: CA8313820
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 647618
ClinVar RCV Id: RCV000802167
dbSNP Id: rs775550642
ExAC: 17:4802072 G / A
gnomAD v2: 17-4802072-G-A
gnomAD v4: 17-4898777-G-A
MyVariant Identifiers: chr17:g.4802072G>A (hg19) chr17:g.4898777G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898777G>A , CM000679.2:g.4898777G>A GRCh38
NC_000017.10:g.4802072G>A , CM000679.1:g.4802072G>A GRCh37
NC_000017.9:g.4742851G>A NCBI36
NG_008029.2:g.9299C>T
NG_028005.1:g.70438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1441C>T MANE Select ENSP00000497829.1:p.Arg481Ter
ENST00000649830.1:c.*77C>T ENSP00000496907.1:n.*77C>T
ENST00000652550.1:n.1167C>T
ENST00000293780.4:c.1441C>T ENSP00000293780.4:p.Arg481Ter
ENST00000572438.1:n.1127C>T
NM_000080.3:c.1441C>T NP_000071.1:p.Arg481Ter
NM_000080.4:c.1441C>T MANE Select NP_000071.1:p.Arg481Ter
XM_017024115.1:c.1405C>T XP_016879604.1:p.Arg469Ter
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