Canonical Allele Identifier: CA8314051

Gene: CHRNE

Linked Data

• dbSNP Id: rs749376670
• ExAC: 17:4802704 G / A
• gnomAD v2: 17-4802704-G-A
• gnomAD v4: 17-4899409-G-A
• MyVariant Identifiers: chr17:g.4802704G>A (hg19) ; chr17:g.4899409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899409G>A , CM000679.2:g.4899409G>A	GRCh38
NC_000017.10:g.4802704G>A , CM000679.1:g.4802704G>A	GRCh37
NC_000017.9:g.4743483G>A	NCBI36
NG_008029.2:g.8667C>T
NG_028005.1:g.71070G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1033-25C>T MANE Select	ENSP00000497829.1:n.1033-25C>T
ENST00000649830.1:c.100-25C>T	ENSP00000496907.1:n.100-25C>T
ENST00000652550.1:n.763-25C>T
ENST00000293780.4:c.1033-25C>T	ENSP00000293780.4:n.1033-25C>T
ENST00000572438.1:n.719-25C>T
NM_000080.3:c.1033-25C>T	NP_000071.1:n.1033-25C>T
NM_000080.4:c.1033-25C>T MANE Select	NP_000071.1:n.1033-25C>T
XM_017024115.1:c.997-25C>T	XP_016879604.1:n.997-25C>T
XR_001752421.1:n.1763-25C>T