Canonical Allele Identifier: CA397307379

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 1397465
• ClinVar RCV Id: RCV001891715
• dbSNP Id: rs1200020913
• gnomAD v3: 17-4902326-C-G
• gnomAD v4: 17-4902326-C-G
• MyVariant Identifiers: chr17:g.4805621C>G (hg19) ; chr17:g.4902326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902326C>G , CM000679.2:g.4902326C>G	GRCh38
NC_000017.10:g.4805621C>G , CM000679.1:g.4805621C>G	GRCh37
NC_000017.9:g.4746400C>G	NCBI36
NG_008029.2:g.5750G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1793C>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1793C>G
ENST00000649488.2:c.235G>C (CHRNE) MANE Select	ENSP00000497829.1:p.Asp79His
ENST00000649830.1:c.-699G>C (CHRNE)	ENSP00000496907.1:n.-699G>C
ENST00000293780.4:c.235G>C (CHRNE)	ENSP00000293780.4:p.Asp79His
ENST00000381365.3:c.*1793C>G (C17orf107)	ENSP00000370770.3:n.*1793C>G
ENST00000575637.1:n.56G>C (CHRNE)
NM_000080.3:c.235G>C (CHRNE)	NP_000071.1:p.Asp79His
NM_001145536.1:c.*1793C>G (C17orf107)	NP_001139008.1:n.*1793C>G
XM_011523612.1:c.546+1820C>G (C17orf107)	XP_011521914.1:n.546+1820C>G
XM_011523631.1:c.235G>C (CHRNE)	XP_011521933.1:p.Asp79His
NM_000080.4:c.235G>C (CHRNE) MANE Select	NP_000071.1:p.Asp79His
XM_017024115.1:c.199G>C (CHRNE)	XP_016879604.1:p.Asp67His
XR_001752421.1:n.1080G>C (CHRNE)
NM_001145536.2:c.*1793C>G (C17orf107) MANE Select	NP_001139008.1:n.*1793C>G