Canonical Allele Identifier: CA397307128

Gene: C17orf107 CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4805573T>G (hg19) ; chr17:g.4902278T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902278T>G , CM000679.2:g.4902278T>G	GRCh38
NC_000017.10:g.4805573T>G , CM000679.1:g.4805573T>G	GRCh37
NC_000017.9:g.4746352T>G	NCBI36
NG_008029.2:g.5798A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*1745T>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1745T>G
ENST00000649488.2:c.283A>C (CHRNE) MANE Select	ENSP00000497829.1:p.Ile95Leu
ENST00000649830.1:c.-651A>C (CHRNE)	ENSP00000496907.1:n.-651A>C
ENST00000293780.4:c.283A>C (CHRNE)	ENSP00000293780.4:p.Ile95Leu
ENST00000381365.3:c.*1745T>G (C17orf107)	ENSP00000370770.3:n.*1745T>G
ENST00000575637.1:n.104A>C (CHRNE)
NM_000080.3:c.283A>C (CHRNE)	NP_000071.1:p.Ile95Leu
NM_001145536.1:c.*1745T>G (C17orf107)	NP_001139008.1:n.*1745T>G
XM_011523612.1:c.546+1772T>G (C17orf107)	XP_011521914.1:n.546+1772T>G
XM_011523631.1:c.283A>C (CHRNE)	XP_011521933.1:p.Ile95Leu
NM_000080.4:c.283A>C (CHRNE) MANE Select	NP_000071.1:p.Ile95Leu
XM_017024115.1:c.247A>C (CHRNE)	XP_016879604.1:p.Ile83Leu
XR_001752421.1:n.1128A>C (CHRNE)
NM_001145536.2:c.*1745T>G (C17orf107) MANE Select	NP_001139008.1:n.*1745T>G