Canonical Allele Identifier: CA2654365042

Gene: KCNE1

Linked Data

• gnomAD v4: 21-34511204-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34511204G>A , CM000683.2:g.34511204G>A	GRCh38
NC_000021.8:g.35883502G>A , CM000683.1:g.35883502G>A	GRCh37
NC_000021.7:g.34805372G>A	NCBI36
NG_009091.1:g.5112C>T , LRG_290:g.5112C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682732.1:n.868C>T
ENST00000683028.1:n.299C>T
ENST00000683564.1:n.300C>T
ENST00000684073.1:n.300C>T
ENST00000684114.1:c.792C>T
ENST00000684327.1:n.300C>T
ENST00000684541.1:c.*281C>T	ENSP00000508287.1:n.*281C>T
ENST00000684616.1:n.361C>T
ENST00000399286.3:c.-265C>T MANE Select	ENSP00000382226.2:n.-265C>T
ENST00000337385.7:c.-265C>T	ENSP00000337255.3:n.-265C>T
ENST00000399284.1:c.-237C>T	ENSP00000382225.1:n.-237C>T
ENST00000399286.2:c.-265C>T	ENSP00000382226.2:n.-265C>T
ENST00000489175.1:n.293C>T
ENST00000611936.1:c.-154C>T	ENSP00000478215.1:n.-154C>T
NM_000219.5:c.-265C>T	NP_000210.2:n.-265C>T
NM_001270402.2:c.-265C>T	NP_001257331.1:n.-265C>T
NM_001270403.2:c.-237C>T	NP_001257332.1:n.-237C>T
NM_001270404.2:c.-154C>T	NP_001257333.1:n.-154C>T
XM_011529557.1:c.65C>T	XP_011527859.1:p.Ser22Leu
NM_000219.6:c.-265C>T MANE Select	NP_000210.2:n.-265C>T
NM_001270402.3:c.-265C>T	NP_001257331.1:n.-265C>T
NM_001270404.3:c.-154C>T	NP_001257333.1:n.-154C>T