Canonical Allele Identifier: CA10644566

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 339746
• ClinVar RCV Id: RCV000281325 ; RCV000338641 ; RCV000390910 ; RCV001709611
• dbSNP Id: rs11373310
• gnomAD v3: 21-34447697-G-GC
• gnomAD v4: 21-34447697-G-GC
• COSMIC: COSN20116882 ; COSN20116883 ; COSN20116884 ; COSN20116885
• MyVariant Identifiers: chr21:g.34447698dupC (hg38) ; chr21:g.34447697_34447698insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34447700dup , CM000683.2:g.34447700dup	GRCh38
NG_009091.1:g.68618dup , LRG_290:g.68618dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000399286.3:c.*1547dup MANE Select	ENSP00000382226.2:n.*1547dup
ENST00000337385.7:c.*1547dup	ENSP00000337255.3:n.*1547dup
ENST00000399289.7:c.*1547dup	ENSP00000382228.3:n.*1547dup
ENST00000432085.5:c.*1547dup	ENSP00000412498.1:n.*1547dup
ENST00000611936.1:c.*1547dup	ENSP00000478215.1:n.*1547dup
ENST00000621601.4:c.*1547dup	ENSP00000483895.1:n.*1547dup
NM_000219.5:c.*1547dup	NP_000210.2:n.*1547dup
NM_001127668.3:c.*1547dup	NP_001121140.1:n.*1547dup
NM_001127669.3:c.*1547dup	NP_001121141.1:n.*1547dup
NM_001127670.3:c.*1547dup	NP_001121142.1:n.*1547dup
NM_001270402.2:c.*1547dup	NP_001257331.1:n.*1547dup
NM_001270403.2:c.*1547dup	NP_001257332.1:n.*1547dup
NM_001270404.2:c.*1547dup	NP_001257333.1:n.*1547dup
NM_001270405.2:c.*1547dup	NP_001257334.1:n.*1547dup
XM_011529555.1:c.13+7688dup	XP_011527857.1:n.13+7688dup
XM_011529557.1:c.279+10956dup	XP_011527859.1:n.279+10956dup
XM_017028342.1:c.*1547dup	XP_016883831.1:n.*1547dup
NM_000219.6:c.*1547dup MANE Select	NP_000210.2:n.*1547dup
NM_001127669.4:c.*1547dup	NP_001121141.1:n.*1547dup
NM_001127668.4:c.*1547dup	NP_001121140.1:n.*1547dup
NM_001127670.4:c.*1547dup	NP_001121142.1:n.*1547dup
NM_001270402.3:c.*1547dup	NP_001257331.1:n.*1547dup
NM_001270404.3:c.*1547dup	NP_001257333.1:n.*1547dup
NM_001270405.3:c.*1547dup	NP_001257334.1:n.*1547dup