Canonical Allele Identifier: CA397306282

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1970008147
• gnomAD v4: 17-4902038-C-G
• MyVariant Identifiers: chr17:g.4805333C>G (hg19) ; chr17:g.4902038C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902038C>G , CM000679.2:g.4902038C>G	GRCh38
NC_000017.10:g.4805333C>G , CM000679.1:g.4805333C>G	GRCh37
NC_000017.9:g.4746112C>G	NCBI36
NG_008029.2:g.6038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1505C>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1505C>G
ENST00000649488.2:c.394G>C (CHRNE) MANE Select	ENSP00000497829.1:p.Glu132Gln
ENST00000649830.1:c.-540G>C (CHRNE)	ENSP00000496907.1:n.-540G>C
ENST00000293780.4:c.394G>C (CHRNE)	ENSP00000293780.4:p.Glu132Gln
ENST00000381365.3:c.*1505C>G (C17orf107)	ENSP00000370770.3:n.*1505C>G
ENST00000575637.1:n.215G>C (CHRNE)
NM_000080.3:c.394G>C (CHRNE)	NP_000071.1:p.Glu132Gln
NM_001145536.1:c.*1505C>G (C17orf107)	NP_001139008.1:n.*1505C>G
XM_011523612.1:c.546+1532C>G (C17orf107)	XP_011521914.1:n.546+1532C>G
XM_011523631.1:c.394G>C (CHRNE)	XP_011521933.1:p.Glu132Gln
NM_000080.4:c.394G>C (CHRNE) MANE Select	NP_000071.1:p.Glu132Gln
XM_017024115.1:c.358G>C (CHRNE)	XP_016879604.1:p.Glu120Gln
XR_001752421.1:n.1239G>C (CHRNE)
NM_001145536.2:c.*1505C>G (C17orf107) MANE Select	NP_001139008.1:n.*1505C>G