Canonical Allele Identifier: CA980965132

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1969953868
• gnomAD v3: 17-4900761-T-C
• gnomAD v4: 17-4900761-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900761T>C , CM000679.2:g.4900761T>C	GRCh38
NC_000017.10:g.4804056T>C , CM000679.1:g.4804056T>C	GRCh37
NC_000017.9:g.4744835T>C	NCBI36
NG_008029.2:g.7315A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*228T>C (C17orf107) MANE Select	ENSP00000370770.3:n.*228T>C
ENST00000649488.2:c.917+32A>G (CHRNE) MANE Select	ENSP00000497829.1:n.917+32A>G
ENST00000649830.1:c.-17+32A>G (CHRNE)	ENSP00000496907.1:n.-17+32A>G
ENST00000293780.4:c.917+32A>G (CHRNE)	ENSP00000293780.4:n.917+32A>G
ENST00000381365.3:c.*228T>C (C17orf107)	ENSP00000370770.3:n.*228T>C
ENST00000521575.1:c.*595T>C (C17orf107)	ENSP00000429241.1:n.*595T>C
ENST00000572438.1:n.603+32A>G (CHRNE)
NM_000080.3:c.917+32A>G (CHRNE)	NP_000071.1:n.917+32A>G
NM_001145536.1:c.*228T>C (C17orf107)	NP_001139008.1:n.*228T>C
XM_011523612.1:c.546+255T>C (C17orf107)	XP_011521914.1:n.546+255T>C
XM_011523631.1:c.802+229A>G (CHRNE)	XP_011521933.1:n.802+229A>G
NM_000080.4:c.917+32A>G (CHRNE) MANE Select	NP_000071.1:n.917+32A>G
XM_017024115.1:c.881+32A>G (CHRNE)	XP_016879604.1:n.881+32A>G
XR_001752421.1:n.1647+229A>G (CHRNE)
NM_001145536.2:c.*228T>C (C17orf107) MANE Select	NP_001139008.1:n.*228T>C