Canonical Allele Identifier: CA8314501

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs774758773
• ExAC: 17:4805434 G / A
• gnomAD v2: 17-4805434-G-A
• gnomAD v4: 17-4902139-G-A
• MyVariant Identifiers: chr17:g.4805434G>A (hg19) ; chr17:g.4902139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902139G>A , CM000679.2:g.4902139G>A	GRCh38
NC_000017.10:g.4805434G>A , CM000679.1:g.4805434G>A	GRCh37
NC_000017.9:g.4746213G>A	NCBI36
NG_008029.2:g.5937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1606G>A (C17orf107) MANE Select	ENSP00000370770.3:n.*1606G>A
ENST00000649488.2:c.345-52C>T (CHRNE) MANE Select	ENSP00000497829.1:n.345-52C>T
ENST00000649830.1:c.-589-52C>T (CHRNE)	ENSP00000496907.1:n.-589-52C>T
ENST00000293780.4:c.345-52C>T (CHRNE)	ENSP00000293780.4:n.345-52C>T
ENST00000381365.3:c.*1606G>A (C17orf107)	ENSP00000370770.3:n.*1606G>A
ENST00000575637.1:n.166-52C>T (CHRNE)
NM_000080.3:c.345-52C>T (CHRNE)	NP_000071.1:n.345-52C>T
NM_001145536.1:c.*1606G>A (C17orf107)	NP_001139008.1:n.*1606G>A
XM_011523612.1:c.546+1633G>A (C17orf107)	XP_011521914.1:n.546+1633G>A
XM_011523631.1:c.345-52C>T (CHRNE)	XP_011521933.1:n.345-52C>T
NM_000080.4:c.345-52C>T (CHRNE) MANE Select	NP_000071.1:n.345-52C>T
XM_017024115.1:c.309-52C>T (CHRNE)	XP_016879604.1:n.309-52C>T
XR_001752421.1:n.1190-52C>T (CHRNE)
NM_001145536.2:c.*1606G>A (C17orf107) MANE Select	NP_001139008.1:n.*1606G>A