Canonical Allele Identifier: CA790782345

Gene: CLCN3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169705401T>A , CM000666.2:g.169705401T>A	GRCh38
NC_000004.11:g.170626552T>A , CM000666.1:g.170626552T>A	GRCh37
NC_000004.10:g.170863127T>A	NCBI36
NG_029731.1:g.89881T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347613.9:c.1750+1217T>A	ENSP00000261514.5:n.1750+1217T>A
ENST00000507875.6:c.1669+1217T>A	ENSP00000425323.2:n.1669+1217T>A
ENST00000513761.6:c.1750+1217T>A MANE Select	ENSP00000424603.1:n.1750+1217T>A
ENST00000347613.8:c.1750+1217T>A	ENSP00000261514.5:n.1750+1217T>A
ENST00000360642.7:c.1669+1217T>A	ENSP00000353857.3:n.1669+1217T>A
ENST00000504131.6:c.1699+1217T>A	ENSP00000424540.3:n.1699+1217T>A
ENST00000507875.5:c.1669+1217T>A	ENSP00000425323.1:n.1669+1217T>A
ENST00000513761.5:c.1750+1217T>A	ENSP00000424603.1:n.1750+1217T>A
ENST00000515420.1:c.714+1217T>A
ENST00000613795.4:c.1669+1217T>A	ENSP00000478336.1:n.1669+1217T>A
NM_001243372.1:c.1669+1217T>A	NP_001230301.1:n.1669+1217T>A
NM_001243374.1:c.1669+1217T>A	NP_001230303.1:n.1669+1217T>A
NM_001829.3:c.1750+1217T>A	NP_001820.2:n.1750+1217T>A
NM_173872.3:c.1750+1217T>A	NP_776297.2:n.1750+1217T>A
XM_005262726.1:c.1669+1217T>A	XP_005262783.1:n.1669+1217T>A
XM_011531586.1:c.1645+1217T>A	XP_011529888.1:n.1645+1217T>A
XM_005262726.3:c.1669+1217T>A	XP_005262783.1:n.1669+1217T>A
XM_011531586.2:c.1645+1217T>A	XP_011529888.1:n.1645+1217T>A
NM_001243372.2:c.1669+1217T>A	NP_001230301.1:n.1669+1217T>A
NM_001829.4:c.1750+1217T>A MANE Select	NP_001820.2:n.1750+1217T>A
NM_173872.4:c.1750+1217T>A	NP_776297.2:n.1750+1217T>A
NM_001243374.2:c.1669+1217T>A	NP_001230303.2:n.1669+1217T>A