Canonical Allele Identifier: CA497675960

Gene: CHRNE C17orf107

Linked Data

• gnomAD v4: 17-4899480-C-G
• MyVariant Identifiers: chr17:g.4802775C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899480C>G , CM000679.2:g.4899480C>G	GRCh38
NC_000017.10:g.4802775C>G , CM000679.1:g.4802775C>G	GRCh37
NC_000017.9:g.4743554C>G	NCBI36
NG_008029.2:g.8596G>C
NG_028005.1:g.71141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1020G>C (CHRNE) MANE Select	ENSP00000497829.1:p.Pro340=
ENST00000649830.1:c.87G>C (CHRNE)	ENSP00000496907.1:p.Pro29=
ENST00000652550.1:n.750G>C (CHRNE)
ENST00000293780.4:c.1020G>C (CHRNE)	ENSP00000293780.4:p.Pro340=
ENST00000521575.1:c.-283C>G (C17orf107)	ENSP00000429241.1:n.-283C>G
ENST00000572438.1:n.706G>C (CHRNE)
NM_000080.3:c.1020G>C (CHRNE)	NP_000071.1:p.Pro340=
XM_011523612.1:c.-283C>G (C17orf107)	XP_011521914.1:n.-283C>G
NM_000080.4:c.1020G>C (CHRNE) MANE Select	NP_000071.1:p.Pro340=
XM_017024115.1:c.984G>C (CHRNE)	XP_016879604.1:p.Pro328=
XR_001752421.1:n.1750G>C (CHRNE)