Canonical Allele Identifier: CA8314199

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs766217556
• ExAC: 17:4804045 A / C
• gnomAD v2: 17-4804045-A-C
• gnomAD v3: 17-4900750-A-C
• gnomAD v4: 17-4900750-A-C
• MyVariant Identifiers: chr17:g.4804045A>C (hg19) ; chr17:g.4900750A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900750A>C , CM000679.2:g.4900750A>C	GRCh38
NC_000017.10:g.4804045A>C , CM000679.1:g.4804045A>C	GRCh37
NC_000017.9:g.4744824A>C	NCBI36
NG_008029.2:g.7326T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*217A>C (C17orf107) MANE Select	ENSP00000370770.3:n.*217A>C
ENST00000649488.2:c.917+43T>G (CHRNE) MANE Select	ENSP00000497829.1:n.917+43T>G
ENST00000649830.1:c.-17+43T>G (CHRNE)	ENSP00000496907.1:n.-17+43T>G
ENST00000293780.4:c.917+43T>G (CHRNE)	ENSP00000293780.4:n.917+43T>G
ENST00000381365.3:c.*217A>C (C17orf107)	ENSP00000370770.3:n.*217A>C
ENST00000521575.1:c.*584A>C (C17orf107)	ENSP00000429241.1:n.*584A>C
ENST00000572438.1:n.603+43T>G (CHRNE)
NM_000080.3:c.917+43T>G (CHRNE)	NP_000071.1:n.917+43T>G
NM_001145536.1:c.*217A>C (C17orf107)	NP_001139008.1:n.*217A>C
XM_011523612.1:c.546+244A>C (C17orf107)	XP_011521914.1:n.546+244A>C
XM_011523631.1:c.802+240T>G (CHRNE)	XP_011521933.1:n.802+240T>G
NM_000080.4:c.917+43T>G (CHRNE) MANE Select	NP_000071.1:n.917+43T>G
XM_017024115.1:c.881+43T>G (CHRNE)	XP_016879604.1:n.881+43T>G
XR_001752421.1:n.1647+240T>G (CHRNE)
NM_001145536.2:c.*217A>C (C17orf107) MANE Select	NP_001139008.1:n.*217A>C