Canonical Allele Identifier: CA397304494

Gene: C17orf107 CHRNE

Linked Data

• gnomAD v4: 17-4900854-A-G
• MyVariant Identifiers: chr17:g.4804149A>G (hg19) ; chr17:g.4900854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900854A>G , CM000679.2:g.4900854A>G	GRCh38
NC_000017.10:g.4804149A>G , CM000679.1:g.4804149A>G	GRCh37
NC_000017.9:g.4744928A>G	NCBI36
NG_008029.2:g.7222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*321A>G (C17orf107) MANE Select	ENSP00000370770.3:n.*321A>G
ENST00000649488.2:c.856T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Phe286Leu
ENST00000649830.1:c.-78T>C (CHRNE)	ENSP00000496907.1:n.-78T>C
ENST00000293780.4:c.856T>C (CHRNE)	ENSP00000293780.4:p.Phe286Leu
ENST00000381365.3:c.*321A>G (C17orf107)	ENSP00000370770.3:n.*321A>G
ENST00000572438.1:n.542T>C (CHRNE)
NM_000080.3:c.856T>C (CHRNE)	NP_000071.1:p.Phe286Leu
NM_001145536.1:c.*321A>G (C17orf107)	NP_001139008.1:n.*321A>G
XM_011523612.1:c.546+348A>G (C17orf107)	XP_011521914.1:n.546+348A>G
XM_011523631.1:c.802+136T>C (CHRNE)	XP_011521933.1:n.802+136T>C
NM_000080.4:c.856T>C (CHRNE) MANE Select	NP_000071.1:p.Phe286Leu
XM_017024115.1:c.820T>C (CHRNE)	XP_016879604.1:p.Phe274Leu
XR_001752421.1:n.1647+136T>C (CHRNE)
NM_001145536.2:c.*321A>G (C17orf107) MANE Select	NP_001139008.1:n.*321A>G