Canonical Allele Identifier: CA497677111

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 1686566
• ClinVar RCV Id: RCV002247079
• dbSNP Id: rs2151098586
• gnomAD v4: 17-4902309-T-C
• MyVariant Identifiers: chr17:g.4805604T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902309T>C , CM000679.2:g.4902309T>C	GRCh38
NC_000017.10:g.4805604T>C , CM000679.1:g.4805604T>C	GRCh37
NC_000017.9:g.4746383T>C	NCBI36
NG_008029.2:g.5767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1776T>C (C17orf107) MANE Select	ENSP00000370770.3:n.*1776T>C
ENST00000649488.2:c.252A>G (CHRNE) MANE Select	ENSP00000497829.1:p.Arg84=
ENST00000649830.1:c.-682A>G (CHRNE)	ENSP00000496907.1:n.-682A>G
ENST00000293780.4:c.252A>G (CHRNE)	ENSP00000293780.4:p.Arg84=
ENST00000381365.3:c.*1776T>C (C17orf107)	ENSP00000370770.3:n.*1776T>C
ENST00000575637.1:n.73A>G (CHRNE)
NM_000080.3:c.252A>G (CHRNE)	NP_000071.1:p.Arg84=
NM_001145536.1:c.*1776T>C (C17orf107)	NP_001139008.1:n.*1776T>C
XM_011523612.1:c.546+1803T>C (C17orf107)	XP_011521914.1:n.546+1803T>C
XM_011523631.1:c.252A>G (CHRNE)	XP_011521933.1:p.Arg84=
NM_000080.4:c.252A>G (CHRNE) MANE Select	NP_000071.1:p.Arg84=
XM_017024115.1:c.216A>G (CHRNE)	XP_016879604.1:p.Arg72=
XR_001752421.1:n.1097A>G (CHRNE)
NM_001145536.2:c.*1776T>C (C17orf107) MANE Select	NP_001139008.1:n.*1776T>C