Canonical Allele Identifier: CA916085604

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 1282485
• ClinVar RCV Id: RCV001695877
• dbSNP Id: rs1568844469

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34458731G>A , CM000683.2:g.34458731G>A	GRCh38
NG_009091.1:g.57585C>T , LRG_290:g.57585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399286.3:c.-128C>T MANE Select	ENSP00000382226.2:n.-128C>T
ENST00000337385.7:c.-128C>T	ENSP00000337255.3:n.-128C>T
ENST00000399284.1:c.-128C>T	ENSP00000382225.1:n.-128C>T
ENST00000399286.2:c.-128C>T	ENSP00000382226.2:n.-128C>T
ENST00000399289.7:c.-128C>T	ENSP00000382228.3:n.-128C>T
ENST00000432085.5:c.-128C>T	ENSP00000412498.1:n.-128C>T
ENST00000611936.1:c.-50-9047C>T	ENSP00000478215.1:n.-50-9047C>T
ENST00000621601.4:c.-128C>T	ENSP00000483895.1:n.-128C>T
NM_000219.5:c.-128C>T	NP_000210.2:n.-128C>T
NM_001127668.3:c.-128C>T	NP_001121140.1:n.-128C>T
NM_001127669.3:c.-128C>T	NP_001121141.1:n.-128C>T
NM_001270402.2:c.-128C>T	NP_001257331.1:n.-128C>T
NM_001270403.2:c.-128C>T	NP_001257332.1:n.-128C>T
NM_001270404.2:c.-50-9047C>T	NP_001257333.1:n.-50-9047C>T
NM_001270405.2:c.-128C>T	NP_001257334.1:n.-128C>T
XM_011529557.1:c.202C>T	XP_011527859.1:p.His68Tyr
NM_000219.6:c.-128C>T MANE Select	NP_000210.2:n.-128C>T
NM_001127669.4:c.-128C>T	NP_001121141.1:n.-128C>T
NM_001127668.4:c.-128C>T	NP_001121140.1:n.-128C>T
NM_001270402.3:c.-128C>T	NP_001257331.1:n.-128C>T
NM_001270404.3:c.-50-9047C>T	NP_001257333.1:n.-50-9047C>T
NM_001270405.3:c.-128C>T	NP_001257334.1:n.-128C>T