Canonical Allele Identifier: CA331964

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 132680
• ClinVar RCV Id: RCV000119092
• dbSNP Id: rs199473647
• gnomAD v4: 21-34449256-G-T
• MyVariant Identifiers: chr21:g.34449256G>T (hg38)
• PubMed: PMID:10973849 ; PMID:15051636 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449256G>T , CM000683.2:g.34449256G>T	GRCh38
NG_009091.1:g.67060C>A , LRG_290:g.67060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399286.3:c.379C>A MANE Select	ENSP00000382226.2:p.Pro127Thr
ENST00000337385.7:c.379C>A	ENSP00000337255.3:p.Pro127Thr
ENST00000399284.1:c.379C>A	ENSP00000382225.1:p.Pro127Thr
ENST00000399286.2:c.379C>A	ENSP00000382226.2:p.Pro127Thr
ENST00000399289.7:c.379C>A	ENSP00000382228.3:p.Pro127Thr
ENST00000416357.6:c.379C>A	ENSP00000416258.2:p.Pro127Thr
ENST00000432085.5:c.379C>A	ENSP00000412498.1:p.Pro127Thr
ENST00000611936.1:c.379C>A	ENSP00000478215.1:p.Pro127Thr
ENST00000621601.4:c.379C>A	ENSP00000483895.1:p.Pro127Thr
NM_000219.5:c.379C>A	NP_000210.2:p.Pro127Thr
NM_001127668.3:c.379C>A	NP_001121140.1:p.Pro127Thr
NM_001127669.3:c.379C>A	NP_001121141.1:p.Pro127Thr
NM_001127670.3:c.379C>A	NP_001121142.1:p.Pro127Thr
NM_001270402.2:c.379C>A	NP_001257331.1:p.Pro127Thr
NM_001270403.2:c.379C>A	NP_001257332.1:p.Pro127Thr
NM_001270404.2:c.379C>A	NP_001257333.1:p.Pro127Thr
NM_001270405.2:c.379C>A	NP_001257334.1:p.Pro127Thr
XM_011529555.1:c.13+6130C>A	XP_011527857.1:n.13+6130C>A
XM_011529557.1:c.279+9398C>A	XP_011527859.1:n.279+9398C>A
XM_017028342.1:c.442C>A	XP_016883831.1:p.Pro148Thr
NM_000219.6:c.379C>A MANE Select	NP_000210.2:p.Pro127Thr
NM_001127669.4:c.379C>A	NP_001121141.1:p.Pro127Thr
NM_001127668.4:c.379C>A	NP_001121140.1:p.Pro127Thr
NM_001127670.4:c.379C>A	NP_001121142.1:p.Pro127Thr
NM_001270402.3:c.379C>A	NP_001257331.1:p.Pro127Thr
NM_001270404.3:c.379C>A	NP_001257333.1:p.Pro127Thr
NM_001270405.3:c.379C>A	NP_001257334.1:p.Pro127Thr