Canonical Allele Identifier: CA8314041

Gene: CHRNE

Linked Data

• ClinVar Variation Id: 284315
• ClinVar RCV Id: RCV000285354 ; RCV000765367 ; RCV000805415 ; RCV001833333 ; RCV003343740
• dbSNP Id: rs757968612
• ExAC: 17:4802670 C / T
• gnomAD v2: 17-4802670-C-T
• gnomAD v3: 17-4899375-C-T
• gnomAD v4: 17-4899375-C-T
• MyVariant Identifiers: chr17:g.4802670C>T (hg19) ; chr17:g.4899375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899375C>T , CM000679.2:g.4899375C>T	GRCh38
NC_000017.10:g.4802670C>T , CM000679.1:g.4802670C>T	GRCh37
NC_000017.9:g.4743449C>T	NCBI36
NG_008029.2:g.8701G>A
NG_028005.1:g.71036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1042G>A MANE Select	ENSP00000497829.1:p.Glu348Lys
ENST00000649830.1:c.109G>A	ENSP00000496907.1:p.Glu37Lys
ENST00000652550.1:n.772G>A
ENST00000293780.4:c.1042G>A	ENSP00000293780.4:p.Glu348Lys
ENST00000572438.1:n.728G>A
NM_000080.3:c.1042G>A	NP_000071.1:p.Glu348Lys
NM_000080.4:c.1042G>A MANE Select	NP_000071.1:p.Glu348Lys
XM_017024115.1:c.1006G>A	XP_016879604.1:p.Glu336Lys
XR_001752421.1:n.1772G>A