Canonical Allele Identifier: CA2654365040

Gene: KCNE1

Linked Data

• gnomAD v4: 21-34511200-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34511200T>A , CM000683.2:g.34511200T>A	GRCh38
NC_000021.8:g.35883498T>A , CM000683.1:g.35883498T>A	GRCh37
NC_000021.7:g.34805368T>A	NCBI36
NG_009091.1:g.5116A>T , LRG_290:g.5116A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682732.1:n.872A>T
ENST00000683028.1:n.303A>T
ENST00000683564.1:n.304A>T
ENST00000684073.1:n.304A>T
ENST00000684114.1:c.796A>T
ENST00000684327.1:n.304A>T
ENST00000684541.1:c.*285A>T	ENSP00000508287.1:n.*285A>T
ENST00000684616.1:n.365A>T
ENST00000399286.3:c.-261A>T MANE Select	ENSP00000382226.2:n.-261A>T
ENST00000337385.7:c.-261A>T	ENSP00000337255.3:n.-261A>T
ENST00000399284.1:c.-233A>T	ENSP00000382225.1:n.-233A>T
ENST00000399286.2:c.-261A>T	ENSP00000382226.2:n.-261A>T
ENST00000489175.1:n.297A>T
ENST00000611936.1:c.-150A>T	ENSP00000478215.1:n.-150A>T
NM_000219.5:c.-261A>T	NP_000210.2:n.-261A>T
NM_001270402.2:c.-261A>T	NP_001257331.1:n.-261A>T
NM_001270403.2:c.-233A>T	NP_001257332.1:n.-233A>T
NM_001270404.2:c.-150A>T	NP_001257333.1:n.-150A>T
XM_011529557.1:c.69A>T	XP_011527859.1:p.Lys23Asn
NM_000219.6:c.-261A>T MANE Select	NP_000210.2:n.-261A>T
NM_001270402.3:c.-261A>T	NP_001257331.1:n.-261A>T
NM_001270404.3:c.-150A>T	NP_001257333.1:n.-150A>T