Canonical Allele Identifier: CA624856067

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1378758902
• gnomAD v2: 17-4805431-A-G
• gnomAD v4: 17-4902136-A-G
• MyVariant Identifiers: chr17:g.4805431A>G (hg19) ; chr17:g.4902136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902136A>G , CM000679.2:g.4902136A>G	GRCh38
NC_000017.10:g.4805431A>G , CM000679.1:g.4805431A>G	GRCh37
NC_000017.9:g.4746210A>G	NCBI36
NG_008029.2:g.5940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1603A>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1603A>G
ENST00000649488.2:c.345-49T>C (CHRNE) MANE Select	ENSP00000497829.1:n.345-49T>C
ENST00000649830.1:c.-589-49T>C (CHRNE)	ENSP00000496907.1:n.-589-49T>C
ENST00000293780.4:c.345-49T>C (CHRNE)	ENSP00000293780.4:n.345-49T>C
ENST00000381365.3:c.*1603A>G (C17orf107)	ENSP00000370770.3:n.*1603A>G
ENST00000575637.1:n.166-49T>C (CHRNE)
NM_000080.3:c.345-49T>C (CHRNE)	NP_000071.1:n.345-49T>C
NM_001145536.1:c.*1603A>G (C17orf107)	NP_001139008.1:n.*1603A>G
XM_011523612.1:c.546+1630A>G (C17orf107)	XP_011521914.1:n.546+1630A>G
XM_011523631.1:c.345-49T>C (CHRNE)	XP_011521933.1:n.345-49T>C
NM_000080.4:c.345-49T>C (CHRNE) MANE Select	NP_000071.1:n.345-49T>C
XM_017024115.1:c.309-49T>C (CHRNE)	XP_016879604.1:n.309-49T>C
XR_001752421.1:n.1190-49T>C (CHRNE)
NM_001145536.2:c.*1603A>G (C17orf107) MANE Select	NP_001139008.1:n.*1603A>G