Canonical Allele Identifier: CA624856047

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1408173794
• gnomAD v2: 17-4804149-AG-A
• gnomAD v3: 17-4900854-AG-A
• gnomAD v4: 17-4900854-AG-A
• MyVariant Identifiers: chr17:g.4804150del (hg19) ; chr17:g.4900855del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900855del , CM000679.2:g.4900855del	GRCh38
NC_000017.10:g.4804150del , CM000679.1:g.4804150del	GRCh37
NC_000017.9:g.4744929del	NCBI36
NG_008029.2:g.7221del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*322del (C17orf107) MANE Select	ENSP00000370770.3:n.*322del
ENST00000649488.2:c.855del (CHRNE) MANE Select	ENSP00000497829.1:p.Phe286SerfsTer14
ENST00000649830.1:c.-79del (CHRNE)	ENSP00000496907.1:n.-79del
ENST00000293780.4:c.855del (CHRNE)	ENSP00000293780.4:p.Phe286SerfsTer14
ENST00000381365.3:c.*322del (C17orf107)	ENSP00000370770.3:n.*322del
ENST00000572438.1:n.541del (CHRNE)
NM_000080.3:c.855del (CHRNE)	NP_000071.1:p.Phe286SerfsTer14
NM_001145536.1:c.*322del (C17orf107)	NP_001139008.1:n.*322del
XM_011523612.1:c.546+349del (C17orf107)	XP_011521914.1:n.546+349del
XM_011523631.1:c.802+135del (CHRNE)	XP_011521933.1:n.802+135del
NM_000080.4:c.855del (CHRNE) MANE Select	NP_000071.1:p.Phe286SerfsTer14
XM_017024115.1:c.819del (CHRNE)	XP_016879604.1:p.Phe274SerfsTer14
XR_001752421.1:n.1647+135del (CHRNE)
NM_001145536.2:c.*322del (C17orf107) MANE Select	NP_001139008.1:n.*322del