Canonical Allele Identifier: CA8314053

Gene: CHRNE C17orf107

Linked Data

• dbSNP Id: rs775550701
• ExAC: 17:4802717 C / T
• gnomAD v2: 17-4802717-C-T
• gnomAD v3: 17-4899422-C-T
• gnomAD v4: 17-4899422-C-T
• MyVariant Identifiers: chr17:g.4802717C>T (hg19) ; chr17:g.4899422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899422C>T , CM000679.2:g.4899422C>T	GRCh38
NC_000017.10:g.4802717C>T , CM000679.1:g.4802717C>T	GRCh37
NC_000017.9:g.4743496C>T	NCBI36
NG_008029.2:g.8654G>A
NG_028005.1:g.71083C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649488.2:c.1033-38G>A (CHRNE) MANE Select	ENSP00000497829.1:n.1033-38G>A
ENST00000649830.1:c.100-38G>A (CHRNE)	ENSP00000496907.1:n.100-38G>A
ENST00000652550.1:n.763-38G>A (CHRNE)
ENST00000293780.4:c.1033-38G>A (CHRNE)	ENSP00000293780.4:n.1033-38G>A
ENST00000521575.1:c.-341C>T (C17orf107)	ENSP00000429241.1:n.-341C>T
ENST00000572438.1:n.719-38G>A (CHRNE)
NM_000080.3:c.1033-38G>A (CHRNE)	NP_000071.1:n.1033-38G>A
NM_000080.4:c.1033-38G>A (CHRNE) MANE Select	NP_000071.1:n.1033-38G>A
XM_017024115.1:c.997-38G>A (CHRNE)	XP_016879604.1:n.997-38G>A
XR_001752421.1:n.1763-38G>A (CHRNE)