Canonical Allele Identifier: CA152406

Gene: CHRNE

Linked Data

• ClinVar Variation Id: 128761
• ClinVar RCV Id: RCV000116734 ; RCV000273943 ; RCV001518248 ; RCV001542827 ; RCV001542828
• dbSNP Id: rs2075763
• ExAC: 17:4802685 G / A
• gnomAD v2: 17-4802685-G-A
• gnomAD v3: 17-4899390-G-A
• gnomAD v4: 17-4899390-G-A
• MyVariant Identifiers: chr17:g.4802685G>A (hg19) ; chr17:g.4899390G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899390G>A , CM000679.2:g.4899390G>A	GRCh38
NC_000017.10:g.4802685G>A , CM000679.1:g.4802685G>A	GRCh37
NC_000017.9:g.4743464G>A	NCBI36
NG_008029.2:g.8686C>T
NG_028005.1:g.71051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1033-6C>T MANE Select	ENSP00000497829.1:n.1033-6C>T
ENST00000649830.1:c.100-6C>T	ENSP00000496907.1:n.100-6C>T
ENST00000652550.1:n.763-6C>T
ENST00000293780.4:c.1033-6C>T	ENSP00000293780.4:n.1033-6C>T
ENST00000572438.1:n.719-6C>T
NM_000080.3:c.1033-6C>T	NP_000071.1:n.1033-6C>T
NM_000080.4:c.1033-6C>T MANE Select	NP_000071.1:n.1033-6C>T
XM_017024115.1:c.997-6C>T	XP_016879604.1:n.997-6C>T
XR_001752421.1:n.1763-6C>T