Canonical Allele Identifier: CA131329

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 42494
• ClinVar RCV Id: RCV000035350 ; RCV001650858 ; RCV002513355 ; RCV003298044 ; RCV003407399
• dbSNP Id: rs397515878
• gnomAD v3: 21-34449636-CT-C
• gnomAD v4: 21-34449636-CT-C
• MyVariant Identifiers: chr21:g.34449637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449637del , CM000683.2:g.34449637del	GRCh38
NG_009091.1:g.66679del , LRG_290:g.66679del

Transcript Alleles

HGVS	Amino-acid change
ENST00000399286.3:c.-3del MANE Select	ENSP00000382226.2:n.-3del
ENST00000337385.7:c.-3del	ENSP00000337255.3:n.-3del
ENST00000399284.1:c.-3del	ENSP00000382225.1:n.-3del
ENST00000399286.2:c.-3del	ENSP00000382226.2:n.-3del
ENST00000399289.7:c.-3del	ENSP00000382228.3:n.-3del
ENST00000416357.6:c.-3del	ENSP00000416258.2:n.-3del
ENST00000432085.5:c.-3del	ENSP00000412498.1:n.-3del
ENST00000611936.1:c.-3del	ENSP00000478215.1:n.-3del
ENST00000621601.4:c.-3del	ENSP00000483895.1:n.-3del
NM_000219.5:c.-3del	NP_000210.2:n.-3del
NM_001127668.3:c.-3del	NP_001121140.1:n.-3del
NM_001127669.3:c.-3del	NP_001121141.1:n.-3del
NM_001127670.3:c.-3del	NP_001121142.1:n.-3del
NM_001270402.2:c.-3del	NP_001257331.1:n.-3del
NM_001270403.2:c.-3del	NP_001257332.1:n.-3del
NM_001270404.2:c.-3del	NP_001257333.1:n.-3del
NM_001270405.2:c.-3del	NP_001257334.1:n.-3del
XM_011529555.1:c.13+5749del	XP_011527857.1:n.13+5749del
XM_011529557.1:c.279+9017del	XP_011527859.1:n.279+9017del
XM_017028342.1:c.61del	XP_016883831.1:p.Arg21GlyfsTer2
NM_000219.6:c.-3del MANE Select	NP_000210.2:n.-3del
NM_001127669.4:c.-3del	NP_001121141.1:n.-3del
NM_001127668.4:c.-3del	NP_001121140.1:n.-3del
NM_001127670.4:c.-3del	NP_001121142.1:n.-3del
NM_001270402.3:c.-3del	NP_001257331.1:n.-3del
NM_001270404.3:c.-3del	NP_001257333.1:n.-3del
NM_001270405.3:c.-3del	NP_001257334.1:n.-3del