Canonical Allele Identifier: CA8313811
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1157189
ClinVar RCV Id: RCV001500153
dbSNP Id: rs780592951
ExAC: 17:4802051 C / T
gnomAD v2: 17-4802051-C-T
gnomAD v3: 17-4898756-C-T
gnomAD v4: 17-4898756-C-T
MyVariant Identifiers: chr17:g.4802051C>T (hg19) chr17:g.4898756C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898756C>T , CM000679.2:g.4898756C>T GRCh38
NC_000017.10:g.4802051C>T , CM000679.1:g.4802051C>T GRCh37
NC_000017.9:g.4742830C>T NCBI36
NG_008029.2:g.9320G>A
NG_028005.1:g.70417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1462G>A MANE Select ENSP00000497829.1:p.Ala488Thr
ENST00000649830.1:c.*98G>A ENSP00000496907.1:n.*98G>A
ENST00000652550.1:n.1188G>A
ENST00000293780.4:c.1462G>A ENSP00000293780.4:p.Ala488Thr
ENST00000572438.1:n.1148G>A
NM_000080.3:c.1462G>A NP_000071.1:p.Ala488Thr
NM_000080.4:c.1462G>A MANE Select NP_000071.1:p.Ala488Thr
XM_017024115.1:c.1426G>A XP_016879604.1:p.Ala476Thr
Search 100 bp 5'
Search 100 bp 3'