Canonical Allele Identifier: CA287182294

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs919252917
• gnomAD v3: 17-4900679-C-T
• gnomAD v4: 17-4900679-C-T
• MyVariant Identifiers: chr17:g.4803974C>T (hg19) ; chr17:g.4900679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900679C>T , CM000679.2:g.4900679C>T	GRCh38
NC_000017.10:g.4803974C>T , CM000679.1:g.4803974C>T	GRCh37
NC_000017.9:g.4744753C>T	NCBI36
NG_008029.2:g.7397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*146C>T (C17orf107) MANE Select	ENSP00000370770.3:n.*146C>T
ENST00000649488.2:c.917+114G>A (CHRNE) MANE Select	ENSP00000497829.1:n.917+114G>A
ENST00000649830.1:c.-17+114G>A (CHRNE)	ENSP00000496907.1:n.-17+114G>A
ENST00000293780.4:c.917+114G>A (CHRNE)	ENSP00000293780.4:n.917+114G>A
ENST00000381365.3:c.*146C>T (C17orf107)	ENSP00000370770.3:n.*146C>T
ENST00000521575.1:c.*513C>T (C17orf107)	ENSP00000429241.1:n.*513C>T
ENST00000572438.1:n.603+114G>A (CHRNE)
NM_000080.3:c.917+114G>A (CHRNE)	NP_000071.1:n.917+114G>A
NM_001145536.1:c.*146C>T (C17orf107)	NP_001139008.1:n.*146C>T
XM_011523612.1:c.546+173C>T (C17orf107)	XP_011521914.1:n.546+173C>T
XM_011523631.1:c.802+311G>A (CHRNE)	XP_011521933.1:n.802+311G>A
NM_000080.4:c.917+114G>A (CHRNE) MANE Select	NP_000071.1:n.917+114G>A
XM_017024115.1:c.881+114G>A (CHRNE)	XP_016879604.1:n.881+114G>A
XR_001752421.1:n.1647+311G>A (CHRNE)
NM_001145536.2:c.*146C>T (C17orf107) MANE Select	NP_001139008.1:n.*146C>T