Canonical Allele Identifier: CA2654365038

Gene: KCNE1

Linked Data

• gnomAD v4: 21-34511198-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34511198C>T , CM000683.2:g.34511198C>T	GRCh38
NC_000021.8:g.35883496C>T , CM000683.1:g.35883496C>T	GRCh37
NC_000021.7:g.34805366C>T	NCBI36
NG_009091.1:g.5118G>A , LRG_290:g.5118G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682732.1:n.874G>A
ENST00000683028.1:n.305G>A
ENST00000683564.1:n.306G>A
ENST00000684073.1:n.306G>A
ENST00000684114.1:c.798G>A
ENST00000684327.1:n.306G>A
ENST00000684541.1:c.*287G>A	ENSP00000508287.1:n.*287G>A
ENST00000684616.1:n.367G>A
ENST00000399286.3:c.-259G>A MANE Select	ENSP00000382226.2:n.-259G>A
ENST00000337385.7:c.-259G>A	ENSP00000337255.3:n.-259G>A
ENST00000399284.1:c.-231G>A	ENSP00000382225.1:n.-231G>A
ENST00000399286.2:c.-259G>A	ENSP00000382226.2:n.-259G>A
ENST00000489175.1:n.299G>A
ENST00000611936.1:c.-148G>A	ENSP00000478215.1:n.-148G>A
NM_000219.5:c.-259G>A	NP_000210.2:n.-259G>A
NM_001270402.2:c.-259G>A	NP_001257331.1:n.-259G>A
NM_001270403.2:c.-231G>A	NP_001257332.1:n.-231G>A
NM_001270404.2:c.-148G>A	NP_001257333.1:n.-148G>A
XM_011529557.1:c.71G>A	XP_011527859.1:p.Ser24Asn
NM_000219.6:c.-259G>A MANE Select	NP_000210.2:n.-259G>A
NM_001270402.3:c.-259G>A	NP_001257331.1:n.-259G>A
NM_001270404.3:c.-148G>A	NP_001257333.1:n.-148G>A