Canonical Allele Identifier: CA397300903

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 2137882
• ClinVar RCV Id: RCV003064380
• MyVariant Identifiers: chr17:g.4802807G>A (hg19) ; chr17:g.4899512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899512G>A , CM000679.2:g.4899512G>A	GRCh38
NC_000017.10:g.4802807G>A , CM000679.1:g.4802807G>A	GRCh37
NC_000017.9:g.4743586G>A	NCBI36
NG_008029.2:g.8564C>T
NG_028005.1:g.71173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.988C>T (CHRNE) MANE Select	ENSP00000497829.1:p.Gln330Ter
ENST00000649830.1:c.55C>T (CHRNE)	ENSP00000496907.1:p.Gln19Ter
ENST00000652550.1:n.718C>T (CHRNE)
ENST00000293780.4:c.988C>T (CHRNE)	ENSP00000293780.4:p.Gln330Ter
ENST00000521575.1:c.-251G>A (C17orf107)	ENSP00000429241.1:n.-251G>A
ENST00000572438.1:n.674C>T (CHRNE)
NM_000080.3:c.988C>T (CHRNE)	NP_000071.1:p.Gln330Ter
XM_011523612.1:c.-251G>A (C17orf107)	XP_011521914.1:n.-251G>A
XM_011523631.1:c.*27C>T (CHRNE)	XP_011521933.1:n.*27C>T
NM_000080.4:c.988C>T (CHRNE) MANE Select	NP_000071.1:p.Gln330Ter
XM_017024115.1:c.952C>T (CHRNE)	XP_016879604.1:p.Gln318Ter
XR_001752421.1:n.1718C>T (CHRNE)