Canonical Allele Identifier: CA624855912

Gene: CHRNE C17orf107

Linked Data

• dbSNP Id: rs776299084
• gnomAD v2: 17-4802735-C-A
• gnomAD v4: 17-4899440-C-A
• MyVariant Identifiers: chr17:g.4802735C>A (hg19) ; chr17:g.4899440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899440C>A , CM000679.2:g.4899440C>A	GRCh38
NC_000017.10:g.4802735C>A , CM000679.1:g.4802735C>A	GRCh37
NC_000017.9:g.4743514C>A	NCBI36
NG_008029.2:g.8636G>T
NG_028005.1:g.71101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1032+28G>T (CHRNE) MANE Select	ENSP00000497829.1:n.1032+28G>T
ENST00000649830.1:c.99+28G>T (CHRNE)	ENSP00000496907.1:n.99+28G>T
ENST00000652550.1:n.762+28G>T (CHRNE)
ENST00000293780.4:c.1032+28G>T (CHRNE)	ENSP00000293780.4:n.1032+28G>T
ENST00000521575.1:c.-323C>A (C17orf107)	ENSP00000429241.1:n.-323C>A
ENST00000572438.1:n.718+28G>T (CHRNE)
NM_000080.3:c.1032+28G>T (CHRNE)	NP_000071.1:n.1032+28G>T
NM_000080.4:c.1032+28G>T (CHRNE) MANE Select	NP_000071.1:n.1032+28G>T
XM_017024115.1:c.996+28G>T (CHRNE)	XP_016879604.1:n.996+28G>T
XR_001752421.1:n.1762+28G>T (CHRNE)