Canonical Allele Identifier: CA497675954

Gene: CHRNE C17orf107

Linked Data

• dbSNP Id: rs1172575232
• gnomAD v2: 17-4802772-C-T
• gnomAD v4: 17-4899477-C-T
• MyVariant Identifiers: chr17:g.4802772C>T (hg19) ; chr17:g.4899477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899477C>T , CM000679.2:g.4899477C>T	GRCh38
NC_000017.10:g.4802772C>T , CM000679.1:g.4802772C>T	GRCh37
NC_000017.9:g.4743551C>T	NCBI36
NG_008029.2:g.8599G>A
NG_028005.1:g.71138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1023G>A (CHRNE) MANE Select	ENSP00000497829.1:p.Arg341=
ENST00000649830.1:c.90G>A (CHRNE)	ENSP00000496907.1:p.Arg30=
ENST00000652550.1:n.753G>A (CHRNE)
ENST00000293780.4:c.1023G>A (CHRNE)	ENSP00000293780.4:p.Arg341=
ENST00000521575.1:c.-286C>T (C17orf107)	ENSP00000429241.1:n.-286C>T
ENST00000572438.1:n.709G>A (CHRNE)
NM_000080.3:c.1023G>A (CHRNE)	NP_000071.1:p.Arg341=
XM_011523612.1:c.-286C>T (C17orf107)	XP_011521914.1:n.-286C>T
NM_000080.4:c.1023G>A (CHRNE) MANE Select	NP_000071.1:p.Arg341=
XM_017024115.1:c.987G>A (CHRNE)	XP_016879604.1:p.Arg329=
XR_001752421.1:n.1753G>A (CHRNE)