Canonical Allele Identifier: CA10653509

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 339733
• ClinVar RCV Id: RCV000302625 ; RCV000346988 ; RCV000392758
• dbSNP Id: rs41314799
• gnomAD v3: 21-34447244-C-T
• gnomAD v4: 21-34447244-C-T
• MyVariant Identifiers: chr21:g.34447244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34447244C>T , CM000683.2:g.34447244C>T	GRCh38
NG_009091.1:g.69072G>A , LRG_290:g.69072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399286.3:c.*2001G>A MANE Select	ENSP00000382226.2:n.*2001G>A
ENST00000337385.7:c.*2001G>A	ENSP00000337255.3:n.*2001G>A
ENST00000399289.7:c.*2001G>A	ENSP00000382228.3:n.*2001G>A
ENST00000432085.5:c.*2001G>A	ENSP00000412498.1:n.*2001G>A
ENST00000611936.1:c.*2001G>A	ENSP00000478215.1:n.*2001G>A
ENST00000621601.4:c.*2001G>A	ENSP00000483895.1:n.*2001G>A
NM_000219.5:c.*2001G>A	NP_000210.2:n.*2001G>A
NM_001127668.3:c.*2001G>A	NP_001121140.1:n.*2001G>A
NM_001127669.3:c.*2001G>A	NP_001121141.1:n.*2001G>A
NM_001127670.3:c.*2001G>A	NP_001121142.1:n.*2001G>A
NM_001270402.2:c.*2001G>A	NP_001257331.1:n.*2001G>A
NM_001270403.2:c.*2001G>A	NP_001257332.1:n.*2001G>A
NM_001270404.2:c.*2001G>A	NP_001257333.1:n.*2001G>A
NM_001270405.2:c.*2001G>A	NP_001257334.1:n.*2001G>A
XM_011529555.1:c.13+8142G>A	XP_011527857.1:n.13+8142G>A
XM_011529557.1:c.279+11410G>A	XP_011527859.1:n.279+11410G>A
XM_017028342.1:c.*2001G>A	XP_016883831.1:n.*2001G>A
NM_000219.6:c.*2001G>A MANE Select	NP_000210.2:n.*2001G>A
NM_001127669.4:c.*2001G>A	NP_001121141.1:n.*2001G>A
NM_001127668.4:c.*2001G>A	NP_001121140.1:n.*2001G>A
NM_001127670.4:c.*2001G>A	NP_001121142.1:n.*2001G>A
NM_001270402.3:c.*2001G>A	NP_001257331.1:n.*2001G>A
NM_001270404.3:c.*2001G>A	NP_001257333.1:n.*2001G>A
NM_001270405.3:c.*2001G>A	NP_001257334.1:n.*2001G>A