Canonical Allele Identifier: CA397300915

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 1328152
• ClinVar RCV Id: RCV001795588
• dbSNP Id: rs2151095207
• MyVariant Identifiers: chr17:g.4802810A>G (hg19) ; chr17:g.4899515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899515A>G , CM000679.2:g.4899515A>G	GRCh38
NC_000017.10:g.4802810A>G , CM000679.1:g.4802810A>G	GRCh37
NC_000017.9:g.4743589A>G	NCBI36
NG_008029.2:g.8561T>C
NG_028005.1:g.71176A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.985T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Ser329Pro
ENST00000649830.1:c.52T>C (CHRNE)	ENSP00000496907.1:p.Ser18Pro
ENST00000652550.1:n.715T>C (CHRNE)
ENST00000293780.4:c.985T>C (CHRNE)	ENSP00000293780.4:p.Ser329Pro
ENST00000521575.1:c.-248A>G (C17orf107)	ENSP00000429241.1:n.-248A>G
ENST00000572438.1:n.671T>C (CHRNE)
NM_000080.3:c.985T>C (CHRNE)	NP_000071.1:p.Ser329Pro
XM_011523612.1:c.-248A>G (C17orf107)	XP_011521914.1:n.-248A>G
XM_011523631.1:c.*24T>C (CHRNE)	XP_011521933.1:n.*24T>C
NM_000080.4:c.985T>C (CHRNE) MANE Select	NP_000071.1:p.Ser329Pro
XM_017024115.1:c.949T>C (CHRNE)	XP_016879604.1:p.Ser317Pro
XR_001752421.1:n.1715T>C (CHRNE)