Canonical Allele Identifier: CA397307287

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1352770248
• gnomAD v2: 17-4805605-C-T
• gnomAD v4: 17-4902310-C-T
• MyVariant Identifiers: chr17:g.4805605C>T (hg19) ; chr17:g.4902310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902310C>T , CM000679.2:g.4902310C>T	GRCh38
NC_000017.10:g.4805605C>T , CM000679.1:g.4805605C>T	GRCh37
NC_000017.9:g.4746384C>T	NCBI36
NG_008029.2:g.5766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1777C>T (C17orf107) MANE Select	ENSP00000370770.3:n.*1777C>T
ENST00000649488.2:c.251G>A (CHRNE) MANE Select	ENSP00000497829.1:p.Arg84Gln
ENST00000649830.1:c.-683G>A (CHRNE)	ENSP00000496907.1:n.-683G>A
ENST00000293780.4:c.251G>A (CHRNE)	ENSP00000293780.4:p.Arg84Gln
ENST00000381365.3:c.*1777C>T (C17orf107)	ENSP00000370770.3:n.*1777C>T
ENST00000575637.1:n.72G>A (CHRNE)
NM_000080.3:c.251G>A (CHRNE)	NP_000071.1:p.Arg84Gln
NM_001145536.1:c.*1777C>T (C17orf107)	NP_001139008.1:n.*1777C>T
XM_011523612.1:c.546+1804C>T (C17orf107)	XP_011521914.1:n.546+1804C>T
XM_011523631.1:c.251G>A (CHRNE)	XP_011521933.1:p.Arg84Gln
NM_000080.4:c.251G>A (CHRNE) MANE Select	NP_000071.1:p.Arg84Gln
XM_017024115.1:c.215G>A (CHRNE)	XP_016879604.1:p.Arg72Gln
XR_001752421.1:n.1096G>A (CHRNE)
NM_001145536.2:c.*1777C>T (C17orf107) MANE Select	NP_001139008.1:n.*1777C>T