Canonical Allele Identifier: CA397300941

Gene: CHRNE C17orf107

Linked Data

• gnomAD v4: 17-4899523-A-G
• MyVariant Identifiers: chr17:g.4802818A>G (hg19) ; chr17:g.4899523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899523A>G , CM000679.2:g.4899523A>G	GRCh38
NC_000017.10:g.4802818A>G , CM000679.1:g.4802818A>G	GRCh37
NC_000017.9:g.4743597A>G	NCBI36
NG_008029.2:g.8553T>C
NG_028005.1:g.71184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.977T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Leu326Pro
ENST00000649830.1:c.44T>C (CHRNE)	ENSP00000496907.1:p.Leu15Pro
ENST00000652550.1:n.707T>C (CHRNE)
ENST00000293780.4:c.977T>C (CHRNE)	ENSP00000293780.4:p.Leu326Pro
ENST00000521575.1:c.-240A>G (C17orf107)	ENSP00000429241.1:n.-240A>G
ENST00000572438.1:n.663T>C (CHRNE)
NM_000080.3:c.977T>C (CHRNE)	NP_000071.1:p.Leu326Pro
XM_011523612.1:c.-240A>G (C17orf107)	XP_011521914.1:n.-240A>G
XM_011523631.1:c.*16T>C (CHRNE)	XP_011521933.1:n.*16T>C
NM_000080.4:c.977T>C (CHRNE) MANE Select	NP_000071.1:p.Leu326Pro
XM_017024115.1:c.941T>C (CHRNE)	XP_016879604.1:p.Leu314Pro
XR_001752421.1:n.1707T>C (CHRNE)