Canonical Allele Identifier: CA397300926

Gene: CHRNE C17orf107

Linked Data

• dbSNP Id: rs1969881119
• gnomAD v4: 17-4899518-C-T
• MyVariant Identifiers: chr17:g.4802813C>T (hg19) ; chr17:g.4899518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899518C>T , CM000679.2:g.4899518C>T	GRCh38
NC_000017.10:g.4802813C>T , CM000679.1:g.4802813C>T	GRCh37
NC_000017.9:g.4743592C>T	NCBI36
NG_008029.2:g.8558G>A
NG_028005.1:g.71179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.982G>A (CHRNE) MANE Select	ENSP00000497829.1:p.Val328Met
ENST00000649830.1:c.49G>A (CHRNE)	ENSP00000496907.1:p.Val17Met
ENST00000652550.1:n.712G>A (CHRNE)
ENST00000293780.4:c.982G>A (CHRNE)	ENSP00000293780.4:p.Val328Met
ENST00000521575.1:c.-245C>T (C17orf107)	ENSP00000429241.1:n.-245C>T
ENST00000572438.1:n.668G>A (CHRNE)
NM_000080.3:c.982G>A (CHRNE)	NP_000071.1:p.Val328Met
XM_011523612.1:c.-245C>T (C17orf107)	XP_011521914.1:n.-245C>T
XM_011523631.1:c.*21G>A (CHRNE)	XP_011521933.1:n.*21G>A
NM_000080.4:c.982G>A (CHRNE) MANE Select	NP_000071.1:p.Val328Met
XM_017024115.1:c.946G>A (CHRNE)	XP_016879604.1:p.Val316Met
XR_001752421.1:n.1712G>A (CHRNE)