Canonical Allele Identifier: CA497676567

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 763419
• ClinVar RCV Id: RCV001276704 ; RCV001468910
• dbSNP Id: rs1597618773
• gnomAD v4: 17-4900852-G-A
• MyVariant Identifiers: chr17:g.4804147G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900852G>A , CM000679.2:g.4900852G>A	GRCh38
NC_000017.10:g.4804147G>A , CM000679.1:g.4804147G>A	GRCh37
NC_000017.9:g.4744926G>A	NCBI36
NG_008029.2:g.7224C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*319G>A (C17orf107) MANE Select	ENSP00000370770.3:n.*319G>A
ENST00000649488.2:c.858C>T (CHRNE) MANE Select	ENSP00000497829.1:p.Phe286=
ENST00000649830.1:c.-76C>T (CHRNE)	ENSP00000496907.1:n.-76C>T
ENST00000293780.4:c.858C>T (CHRNE)	ENSP00000293780.4:p.Phe286=
ENST00000381365.3:c.*319G>A (C17orf107)	ENSP00000370770.3:n.*319G>A
ENST00000572438.1:n.544C>T (CHRNE)
NM_000080.3:c.858C>T (CHRNE)	NP_000071.1:p.Phe286=
NM_001145536.1:c.*319G>A (C17orf107)	NP_001139008.1:n.*319G>A
XM_011523612.1:c.546+346G>A (C17orf107)	XP_011521914.1:n.546+346G>A
XM_011523631.1:c.802+138C>T (CHRNE)	XP_011521933.1:n.802+138C>T
NM_000080.4:c.858C>T (CHRNE) MANE Select	NP_000071.1:p.Phe286=
XM_017024115.1:c.822C>T (CHRNE)	XP_016879604.1:p.Phe274=
XR_001752421.1:n.1647+138C>T (CHRNE)
NM_001145536.2:c.*319G>A (C17orf107) MANE Select	NP_001139008.1:n.*319G>A