Canonical Allele Identifier: CA152418

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 128768
• ClinVar RCV Id: RCV000116741 ; RCV000331786 ; RCV000548750 ; RCV001573702
• dbSNP Id: rs4790235
• ExAC: 17:4806052 C / A
• gnomAD v2: 17-4806052-C-A
• gnomAD v3: 17-4902757-C-A
• gnomAD v4: 17-4902757-C-A
• MyVariant Identifiers: chr17:g.4806052C>A (hg19) ; chr17:g.4902757C>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902757C>A , CM000679.2:g.4902757C>A	GRCh38
NC_000017.10:g.4806052C>A , CM000679.1:g.4806052C>A	GRCh37
NC_000017.9:g.4746831C>A	NCBI36
NG_008029.2:g.5319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*2224C>A (C17orf107) MANE Select	ENSP00000370770.3:n.*2224C>A
ENST00000649488.2:c.53G>T (CHRNE) MANE Select	ENSP00000497829.1:p.Gly18Val
ENST00000649830.1:c.-881G>T (CHRNE)	ENSP00000496907.1:n.-881G>T
ENST00000293780.4:c.53G>T (CHRNE)	ENSP00000293780.4:p.Gly18Val
ENST00000381365.3:c.*2224C>A (C17orf107)	ENSP00000370770.3:n.*2224C>A
NM_000080.3:c.53G>T (CHRNE)	NP_000071.1:p.Gly18Val
NM_001145536.1:c.*2224C>A (C17orf107)	NP_001139008.1:n.*2224C>A
XM_011523612.1:c.547-2247C>A (C17orf107)	XP_011521914.1:n.547-2247C>A
XM_011523631.1:c.53G>T (CHRNE)	XP_011521933.1:p.Gly18Val
NM_000080.4:c.53G>T (CHRNE) MANE Select	NP_000071.1:p.Gly18Val
XM_017024115.1:c.17G>T (CHRNE)	XP_016879604.1:p.Gly6Val
XR_001752421.1:n.898G>T (CHRNE)
NM_001145536.2:c.*2224C>A (C17orf107) MANE Select	NP_001139008.1:n.*2224C>A