Canonical Allele Identifier: CA10652883

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 339728
• ClinVar RCV Id: RCV000265999 ; RCV000310535 ; RCV000365248
• dbSNP Id: rs530554373
• MyVariant Identifiers: chr21:g.34447095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34447095C>T , CM000683.2:g.34447095C>T	GRCh38
NG_009091.1:g.69221G>A , LRG_290:g.69221G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399286.3:c.*2150G>A MANE Select	ENSP00000382226.2:n.*2150G>A
ENST00000337385.7:c.*2150G>A	ENSP00000337255.3:n.*2150G>A
ENST00000399289.7:c.*2150G>A	ENSP00000382228.3:n.*2150G>A
ENST00000432085.5:c.*2150G>A	ENSP00000412498.1:n.*2150G>A
ENST00000611936.1:c.*2150G>A	ENSP00000478215.1:n.*2150G>A
ENST00000621601.4:c.*2150G>A	ENSP00000483895.1:n.*2150G>A
NM_000219.5:c.*2150G>A	NP_000210.2:n.*2150G>A
NM_001127668.3:c.*2150G>A	NP_001121140.1:n.*2150G>A
NM_001127669.3:c.*2150G>A	NP_001121141.1:n.*2150G>A
NM_001127670.3:c.*2150G>A	NP_001121142.1:n.*2150G>A
NM_001270402.2:c.*2150G>A	NP_001257331.1:n.*2150G>A
NM_001270403.2:c.*2150G>A	NP_001257332.1:n.*2150G>A
NM_001270404.2:c.*2150G>A	NP_001257333.1:n.*2150G>A
NM_001270405.2:c.*2150G>A	NP_001257334.1:n.*2150G>A
XM_011529555.1:c.13+8291G>A	XP_011527857.1:n.13+8291G>A
XM_011529557.1:c.279+11559G>A	XP_011527859.1:n.279+11559G>A
XM_017028342.1:c.*2150G>A	XP_016883831.1:n.*2150G>A
NM_000219.6:c.*2150G>A MANE Select	NP_000210.2:n.*2150G>A
NM_001127669.4:c.*2150G>A	NP_001121141.1:n.*2150G>A
NM_001127668.4:c.*2150G>A	NP_001121140.1:n.*2150G>A
NM_001127670.4:c.*2150G>A	NP_001121142.1:n.*2150G>A
NM_001270402.3:c.*2150G>A	NP_001257331.1:n.*2150G>A
NM_001270404.3:c.*2150G>A	NP_001257333.1:n.*2150G>A
NM_001270405.3:c.*2150G>A	NP_001257334.1:n.*2150G>A