Canonical Allele Identifier: CA497675713
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2826742
ClinVar RCV Id: RCV003641625
MyVariant Identifiers: chr17:g.4802034A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898739A>C , CM000679.2:g.4898739A>C GRCh38
NC_000017.10:g.4802034A>C , CM000679.1:g.4802034A>C GRCh37
NC_000017.9:g.4742813A>C NCBI36
NG_008029.2:g.9337T>G
NG_028005.1:g.70400A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1479T>G MANE Select ENSP00000497829.1:p.Pro493=
ENST00000649830.1:c.*115T>G ENSP00000496907.1:n.*115T>G
ENST00000652550.1:n.1205T>G
ENST00000293780.4:c.1479T>G ENSP00000293780.4:p.Pro493=
ENST00000572438.1:n.1165T>G
NM_000080.3:c.1479T>G NP_000071.1:p.Pro493=
NM_000080.4:c.1479T>G MANE Select NP_000071.1:p.Pro493=
XM_017024115.1:c.1443T>G XP_016879604.1:p.Pro481=
Search 100 bp 5'
Search 100 bp 3'