Canonical Allele Identifier: CA397307377

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 858675
• ClinVar RCV Id: RCV001064603 ; RCV001827418
• dbSNP Id: rs1200020913
• gnomAD v3: 17-4902326-C-A
• gnomAD v4: 17-4902326-C-A
• MyVariant Identifiers: chr17:g.4805621C>A (hg19) ; chr17:g.4902326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902326C>A , CM000679.2:g.4902326C>A	GRCh38
NC_000017.10:g.4805621C>A , CM000679.1:g.4805621C>A	GRCh37
NC_000017.9:g.4746400C>A	NCBI36
NG_008029.2:g.5750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1793C>A (C17orf107) MANE Select	ENSP00000370770.3:n.*1793C>A
ENST00000649488.2:c.235G>T (CHRNE) MANE Select	ENSP00000497829.1:p.Asp79Tyr
ENST00000649830.1:c.-699G>T (CHRNE)	ENSP00000496907.1:n.-699G>T
ENST00000293780.4:c.235G>T (CHRNE)	ENSP00000293780.4:p.Asp79Tyr
ENST00000381365.3:c.*1793C>A (C17orf107)	ENSP00000370770.3:n.*1793C>A
ENST00000575637.1:n.56G>T (CHRNE)
NM_000080.3:c.235G>T (CHRNE)	NP_000071.1:p.Asp79Tyr
NM_001145536.1:c.*1793C>A (C17orf107)	NP_001139008.1:n.*1793C>A
XM_011523612.1:c.546+1820C>A (C17orf107)	XP_011521914.1:n.546+1820C>A
XM_011523631.1:c.235G>T (CHRNE)	XP_011521933.1:p.Asp79Tyr
NM_000080.4:c.235G>T (CHRNE) MANE Select	NP_000071.1:p.Asp79Tyr
XM_017024115.1:c.199G>T (CHRNE)	XP_016879604.1:p.Asp67Tyr
XR_001752421.1:n.1080G>T (CHRNE)
NM_001145536.2:c.*1793C>A (C17orf107) MANE Select	NP_001139008.1:n.*1793C>A