Canonical Allele Identifier: CA8313959

Gene: CHRNE

Linked Data

• ClinVar Variation Id: 254891
• ClinVar RCV Id: RCV000245886 ; RCV000840005 ; RCV001542826 ; RCV001542824 ; RCV001542825
• dbSNP Id: rs75492003
• ExAC: 17:4802447 G / A
• gnomAD v2: 17-4802447-G-A
• gnomAD v3: 17-4899152-G-A
• gnomAD v4: 17-4899152-G-A
• MyVariant Identifiers: chr17:g.4802447G>A (hg19) ; chr17:g.4899152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899152G>A , CM000679.2:g.4899152G>A	GRCh38
NC_000017.10:g.4802447G>A , CM000679.1:g.4802447G>A	GRCh37
NC_000017.9:g.4743226G>A	NCBI36
NG_008029.2:g.8924C>T
NG_028005.1:g.70813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1220-45C>T MANE Select	ENSP00000497829.1:n.1220-45C>T
ENST00000649830.1:c.287-45C>T	ENSP00000496907.1:n.287-45C>T
ENST00000652550.1:n.950-45C>T
ENST00000293780.4:c.1220-45C>T	ENSP00000293780.4:n.1220-45C>T
ENST00000572438.1:n.906-45C>T
NM_000080.3:c.1220-45C>T	NP_000071.1:n.1220-45C>T
NM_000080.4:c.1220-45C>T MANE Select	NP_000071.1:n.1220-45C>T
XM_017024115.1:c.1184-45C>T	XP_016879604.1:n.1184-45C>T