Canonical Allele Identifier: CA397300776

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 3001893
• ClinVar RCV Id: RCV003862956
• gnomAD v4: 17-4899472-C-A
• MyVariant Identifiers: chr17:g.4802767C>A (hg19) ; chr17:g.4899472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899472C>A , CM000679.2:g.4899472C>A	GRCh38
NC_000017.10:g.4802767C>A , CM000679.1:g.4802767C>A	GRCh37
NC_000017.9:g.4743546C>A	NCBI36
NG_008029.2:g.8604G>T
NG_028005.1:g.71133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1028G>T (CHRNE) MANE Select	ENSP00000497829.1:p.Arg343Leu
ENST00000649830.1:c.95G>T (CHRNE)	ENSP00000496907.1:p.Arg32Leu
ENST00000652550.1:n.758G>T (CHRNE)
ENST00000293780.4:c.1028G>T (CHRNE)	ENSP00000293780.4:p.Arg343Leu
ENST00000521575.1:c.-291C>A (C17orf107)	ENSP00000429241.1:n.-291C>A
ENST00000572438.1:n.714G>T (CHRNE)
NM_000080.3:c.1028G>T (CHRNE)	NP_000071.1:p.Arg343Leu
XM_011523612.1:c.-291C>A (C17orf107)	XP_011521914.1:n.-291C>A
NM_000080.4:c.1028G>T (CHRNE) MANE Select	NP_000071.1:p.Arg343Leu
XM_017024115.1:c.992G>T (CHRNE)	XP_016879604.1:p.Arg331Leu
XR_001752421.1:n.1758G>T (CHRNE)