Canonical Allele Identifier: CA8314200

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs774291429
• ExAC: 17:4804046 C / A
• gnomAD v2: 17-4804046-C-A
• gnomAD v4: 17-4900751-C-A
• MyVariant Identifiers: chr17:g.4804046C>A (hg19) ; chr17:g.4900751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900751C>A , CM000679.2:g.4900751C>A	GRCh38
NC_000017.10:g.4804046C>A , CM000679.1:g.4804046C>A	GRCh37
NC_000017.9:g.4744825C>A	NCBI36
NG_008029.2:g.7325G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*218C>A (C17orf107) MANE Select	ENSP00000370770.3:n.*218C>A
ENST00000649488.2:c.917+42G>T (CHRNE) MANE Select	ENSP00000497829.1:n.917+42G>T
ENST00000649830.1:c.-17+42G>T (CHRNE)	ENSP00000496907.1:n.-17+42G>T
ENST00000293780.4:c.917+42G>T (CHRNE)	ENSP00000293780.4:n.917+42G>T
ENST00000381365.3:c.*218C>A (C17orf107)	ENSP00000370770.3:n.*218C>A
ENST00000521575.1:c.*585C>A (C17orf107)	ENSP00000429241.1:n.*585C>A
ENST00000572438.1:n.603+42G>T (CHRNE)
NM_000080.3:c.917+42G>T (CHRNE)	NP_000071.1:n.917+42G>T
NM_001145536.1:c.*218C>A (C17orf107)	NP_001139008.1:n.*218C>A
XM_011523612.1:c.546+245C>A (C17orf107)	XP_011521914.1:n.546+245C>A
XM_011523631.1:c.802+239G>T (CHRNE)	XP_011521933.1:n.802+239G>T
NM_000080.4:c.917+42G>T (CHRNE) MANE Select	NP_000071.1:n.917+42G>T
XM_017024115.1:c.881+42G>T (CHRNE)	XP_016879604.1:n.881+42G>T
XR_001752421.1:n.1647+239G>T (CHRNE)
NM_001145536.2:c.*218C>A (C17orf107) MANE Select	NP_001139008.1:n.*218C>A