Canonical Allele Identifier: CA8314201

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs149568951
• ExAC: 17:4804063 A / AC
• gnomAD v2: 17-4804063-A-AC
• gnomAD v3: 17-4900768-A-AC
• gnomAD v4: 17-4900768-A-AC
• MyVariant Identifiers: chr17:g.4804063_4804064insC (hg19) ; chr17:g.4900768_4900769insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900773dup , CM000679.2:g.4900773dup	GRCh38
NC_000017.10:g.4804068dup , CM000679.1:g.4804068dup	GRCh37
NC_000017.9:g.4744847dup	NCBI36
NG_008029.2:g.7307dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*240dup (C17orf107) MANE Select	ENSP00000370770.3:n.*240dup
ENST00000649488.2:c.917+24dup (CHRNE) MANE Select	ENSP00000497829.1:n.917+24dup
ENST00000649830.1:c.-17+24dup (CHRNE)	ENSP00000496907.1:n.-17+24dup
ENST00000293780.4:c.917+24dup (CHRNE)	ENSP00000293780.4:n.917+24dup
ENST00000381365.3:c.*240dup (C17orf107)	ENSP00000370770.3:n.*240dup
ENST00000521575.1:c.*607dup (C17orf107)	ENSP00000429241.1:n.*607dup
ENST00000572438.1:n.603+24dup (CHRNE)
NM_000080.3:c.917+24dup (CHRNE)	NP_000071.1:n.917+24dup
NM_001145536.1:c.*240dup (C17orf107)	NP_001139008.1:n.*240dup
XM_011523612.1:c.546+267dup (C17orf107)	XP_011521914.1:n.546+267dup
XM_011523631.1:c.802+221dup (CHRNE)	XP_011521933.1:n.802+221dup
NM_000080.4:c.917+24dup (CHRNE) MANE Select	NP_000071.1:n.917+24dup
XM_017024115.1:c.881+24dup (CHRNE)	XP_016879604.1:n.881+24dup
XR_001752421.1:n.1647+221dup (CHRNE)
NM_001145536.2:c.*240dup (C17orf107) MANE Select	NP_001139008.1:n.*240dup