Canonical Allele Identifier: CA10575535

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 18348
• ClinVar RCV Id: RCV000326857 ; RCV000641735 ; RCV001271737 ; RCV002288513 ; RCV000020016
• dbSNP Id: rs879255562
• gnomAD v3: 17-4899528-GA-G
• gnomAD v4: 17-4899528-GA-G
• MyVariant Identifiers: chr17:g.4802824del (hg19) ; chr17:g.4899529del (hg38)
• PubMed: PMID:9443457 ; PMID:11030414 ; PMID:16087917

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899529del , CM000679.2:g.4899529del	GRCh38
NC_000017.10:g.4802824del , CM000679.1:g.4802824del	GRCh37
NC_000017.9:g.4743603del	NCBI36
NG_008029.2:g.8547del
NG_028005.1:g.71190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.971del (CHRNE) MANE Select	ENSP00000497829.1:p.Ile324ThrfsTer?
ENST00000649830.1:c.38del (CHRNE)	ENSP00000496907.1:p.Ile13ThrfsTer?
ENST00000652550.1:n.701del (CHRNE)
ENST00000293780.4:c.971del (CHRNE)	ENSP00000293780.4:p.Ile324ThrfsTer?
ENST00000521575.1:c.-234del (C17orf107)	ENSP00000429241.1:n.-234del
ENST00000572438.1:n.657del (CHRNE)
NM_000080.3:c.971del (CHRNE)	NP_000071.1:p.Ile324ThrfsTer?
XM_011523612.1:c.-234del (C17orf107)	XP_011521914.1:n.-234del
XM_011523631.1:c.*10del (CHRNE)	XP_011521933.1:n.*10del
NM_000080.4:c.971del (CHRNE) MANE Select	NP_000071.1:p.Ile324ThrfsTer?
XM_017024115.1:c.935del (CHRNE)	XP_016879604.1:p.Ile312ThrfsTer?
XR_001752421.1:n.1701del (CHRNE)