Canonical Allele Identifier: CA772686409

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2680783
• ClinVar RCV Id: RCV003468423
• dbSNP Id: rs1178008902
• gnomAD v4: 17-4900849-CAAG-C
• MyVariant Identifiers: chr17:g.4804145_4804147del (hg19) ; chr17:g.4900850_4900852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900854_4900856del , CM000679.2:g.4900854_4900856del	GRCh38
NC_000017.10:g.4804149_4804151del , CM000679.1:g.4804149_4804151del	GRCh37
NC_000017.9:g.4744928_4744930del	NCBI36
NG_008029.2:g.7224_7226del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*321_*323del (C17orf107) MANE Select	ENSP00000370770.3:n.*321_*323del
ENST00000649488.2:c.858_860del (CHRNE) MANE Select	ENSP00000497829.1:p.Phe286del
ENST00000649830.1:c.-76_-74del (CHRNE)	ENSP00000496907.1:n.-76_-74del
ENST00000293780.4:c.858_860del (CHRNE)	ENSP00000293780.4:p.Phe286del
ENST00000381365.3:c.*321_*323del (C17orf107)	ENSP00000370770.3:n.*321_*323del
ENST00000572438.1:n.544_546del (CHRNE)
NM_000080.3:c.858_860del (CHRNE)	NP_000071.1:p.Phe286del
NM_001145536.1:c.*321_*323del (C17orf107)	NP_001139008.1:n.*321_*323del
XM_011523612.1:c.546+348_546+350del (C17orf107)	XP_011521914.1:n.546+348_546+350del
XM_011523631.1:c.802+138_802+140del (CHRNE)	XP_011521933.1:n.802+138_802+140del
NM_000080.4:c.858_860del (CHRNE) MANE Select	NP_000071.1:p.Phe286del
XM_017024115.1:c.822_824del (CHRNE)	XP_016879604.1:p.Phe274del
XR_001752421.1:n.1647+138_1647+140del (CHRNE)
NM_001145536.2:c.*321_*323del (C17orf107) MANE Select	NP_001139008.1:n.*321_*323del