Canonical Allele Identifier: CA497675965

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 723942
• ClinVar RCV Id: RCV001432337
• dbSNP Id: rs114454383
• gnomAD v2: 17-4802778-G-A
• gnomAD v3: 17-4899483-G-A
• gnomAD v4: 17-4899483-G-A
• MyVariant Identifiers: chr17:g.4802778G>A (hg19) ; chr17:g.4899483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899483G>A , CM000679.2:g.4899483G>A	GRCh38
NC_000017.10:g.4802778G>A , CM000679.1:g.4802778G>A	GRCh37
NC_000017.9:g.4743557G>A	NCBI36
NG_008029.2:g.8593C>T
NG_028005.1:g.71144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1017C>T (CHRNE) MANE Select	ENSP00000497829.1:p.Ser339=
ENST00000649830.1:c.84C>T (CHRNE)	ENSP00000496907.1:p.Ser28=
ENST00000652550.1:n.747C>T (CHRNE)
ENST00000293780.4:c.1017C>T (CHRNE)	ENSP00000293780.4:p.Ser339=
ENST00000521575.1:c.-280G>A (C17orf107)	ENSP00000429241.1:n.-280G>A
ENST00000572438.1:n.703C>T (CHRNE)
NM_000080.3:c.1017C>T (CHRNE)	NP_000071.1:p.Ser339=
XM_011523612.1:c.-280G>A (C17orf107)	XP_011521914.1:n.-280G>A
NM_000080.4:c.1017C>T (CHRNE) MANE Select	NP_000071.1:p.Ser339=
XM_017024115.1:c.981C>T (CHRNE)	XP_016879604.1:p.Ser327=
XR_001752421.1:n.1747C>T (CHRNE)