Canonical Allele Identifier: CA8314307

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 18357
• ClinVar RCV Id: RCV000020025 ; RCV000551845 ; RCV000598584 ; RCV000853364 ; RCV001271739 ; RCV002504812
• dbSNP Id: rs753828284
• ExAC: 17:4804466 GATGGCCC / G
• gnomAD v2: 17-4804466-GATGGCCC-G
• gnomAD v3: 17-4901171-GATGGCCC-G
• gnomAD v4: 17-4901171-GATGGCCC-G
• MyVariant Identifiers: chr17:g.4804467_4804473del (hg19) ; chr17:g.4901173_4901179del (hg38) ; chr17:g.4901172_4901178del (hg38)
• PubMed: PMID:9158150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901173_4901179del , CM000679.2:g.4901173_4901179del	GRCh38
NC_000017.10:g.4804468_4804474del , CM000679.1:g.4804468_4804474del	GRCh37
NC_000017.9:g.4745247_4745253del	NCBI36
NG_008029.2:g.6898_6904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*640_*646del (C17orf107) MANE Select	ENSP00000370770.3:n.*640_*646del
ENST00000649488.2:c.614_620del (CHRNE) MANE Select	ENSP00000497829.1:p.Trp205SerfsTer7
ENST00000649830.1:c.-320_-314del (CHRNE)	ENSP00000496907.1:n.-320_-314del
ENST00000293780.4:c.614_620del (CHRNE)	ENSP00000293780.4:p.Trp205SerfsTer7
ENST00000381365.3:c.*640_*646del (C17orf107)	ENSP00000370770.3:n.*640_*646del
ENST00000572438.1:n.300_306del (CHRNE)
ENST00000575637.1:n.388_394del (CHRNE)
NM_000080.3:c.614_620del (CHRNE)	NP_000071.1:p.Trp205SerfsTer7
NM_001145536.1:c.*640_*646del (C17orf107)	NP_001139008.1:n.*640_*646del
XM_011523612.1:c.546+667_546+673del (C17orf107)	XP_011521914.1:n.546+667_546+673del
XM_011523631.1:c.614_620del (CHRNE)	XP_011521933.1:p.Trp205SerfsTer7
NM_000080.4:c.614_620del (CHRNE) MANE Select	NP_000071.1:p.Trp205SerfsTer7
XM_017024115.1:c.578_584del (CHRNE)	XP_016879604.1:p.Trp193SerfsTer7
XR_001752421.1:n.1459_1465del (CHRNE)
NM_001145536.2:c.*640_*646del (C17orf107) MANE Select	NP_001139008.1:n.*640_*646del