Canonical Allele Identifier: CA397300799

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 657553
• ClinVar RCV Id: RCV000814181 ; RCV001830783
• dbSNP Id: rs1597615227
• gnomAD v4: 17-4899479-G-A
• MyVariant Identifiers: chr17:g.4802774G>A (hg19) ; chr17:g.4899479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899479G>A , CM000679.2:g.4899479G>A	GRCh38
NC_000017.10:g.4802774G>A , CM000679.1:g.4802774G>A	GRCh37
NC_000017.9:g.4743553G>A	NCBI36
NG_008029.2:g.8597C>T
NG_028005.1:g.71140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1021C>T (CHRNE) MANE Select	ENSP00000497829.1:p.Arg341Trp
ENST00000649830.1:c.88C>T (CHRNE)	ENSP00000496907.1:p.Arg30Trp
ENST00000652550.1:n.751C>T (CHRNE)
ENST00000293780.4:c.1021C>T (CHRNE)	ENSP00000293780.4:p.Arg341Trp
ENST00000521575.1:c.-284G>A (C17orf107)	ENSP00000429241.1:n.-284G>A
ENST00000572438.1:n.707C>T (CHRNE)
NM_000080.3:c.1021C>T (CHRNE)	NP_000071.1:p.Arg341Trp
XM_011523612.1:c.-284G>A (C17orf107)	XP_011521914.1:n.-284G>A
NM_000080.4:c.1021C>T (CHRNE) MANE Select	NP_000071.1:p.Arg341Trp
XM_017024115.1:c.985C>T (CHRNE)	XP_016879604.1:p.Arg329Trp
XR_001752421.1:n.1751C>T (CHRNE)