Canonical Allele Identifier: CA10653542

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 339779
• ClinVar RCV Id: RCV001711964
• dbSNP Id: rs2834502
• gnomAD v2: 21-35883489-C-T
• gnomAD v3: 21-34511191-C-T
• gnomAD v4: 21-34511191-C-T
• MyVariant Identifiers: chr21:g.35883489C>T (hg19) ; chr21:g.34511191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34511191C>T , CM000683.2:g.34511191C>T	GRCh38
NC_000021.8:g.35883489C>T , CM000683.1:g.35883489C>T	GRCh37
NC_000021.7:g.34805359C>T	NCBI36
NG_009091.1:g.5125G>A , LRG_290:g.5125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682732.1:n.881G>A
ENST00000683028.1:n.312G>A
ENST00000683564.1:n.313G>A
ENST00000684073.1:n.313G>A
ENST00000684114.1:c.805G>A
ENST00000684327.1:n.313G>A
ENST00000684541.1:c.*294G>A	ENSP00000508287.1:n.*294G>A
ENST00000684616.1:n.374G>A
ENST00000399286.3:c.-252G>A MANE Select	ENSP00000382226.2:n.-252G>A
ENST00000337385.7:c.-252G>A	ENSP00000337255.3:n.-252G>A
ENST00000399284.1:c.-224G>A	ENSP00000382225.1:n.-224G>A
ENST00000399286.2:c.-252G>A	ENSP00000382226.2:n.-252G>A
ENST00000489175.1:n.306G>A
ENST00000611936.1:c.-141G>A	ENSP00000478215.1:n.-141G>A
NM_000219.5:c.-252G>A	NP_000210.2:n.-252G>A
NM_001270402.2:c.-252G>A	NP_001257331.1:n.-252G>A
NM_001270403.2:c.-224G>A	NP_001257332.1:n.-224G>A
NM_001270404.2:c.-141G>A	NP_001257333.1:n.-141G>A
XM_011529557.1:c.78G>A	XP_011527859.1:p.Glu26=
NM_000219.6:c.-252G>A MANE Select	NP_000210.2:n.-252G>A
NM_001270402.3:c.-252G>A	NP_001257331.1:n.-252G>A
NM_001270404.3:c.-141G>A	NP_001257333.1:n.-141G>A