Canonical Allele Identifier: CA914658950

Gene: KCNE1

Linked Data

• dbSNP Id: rs1568868456
• gnomAD v2: 21-35883511-T-C
• gnomAD v3: 21-34511213-T-C
• gnomAD v4: 21-34511213-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34511213T>C , CM000683.2:g.34511213T>C	GRCh38
NC_000021.8:g.35883511T>C , CM000683.1:g.35883511T>C	GRCh37
NC_000021.7:g.34805381T>C	NCBI36
NG_009091.1:g.5103A>G , LRG_290:g.5103A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682732.1:n.859A>G
ENST00000683028.1:n.290A>G
ENST00000683564.1:n.291A>G
ENST00000684073.1:n.291A>G
ENST00000684114.1:c.783A>G
ENST00000684327.1:n.291A>G
ENST00000684541.1:c.*272A>G	ENSP00000508287.1:n.*272A>G
ENST00000684616.1:n.352A>G
ENST00000399286.3:c.-274A>G MANE Select	ENSP00000382226.2:n.-274A>G
ENST00000337385.7:c.-274A>G	ENSP00000337255.3:n.-274A>G
ENST00000399284.1:c.-246A>G	ENSP00000382225.1:n.-246A>G
ENST00000399286.2:c.-274A>G	ENSP00000382226.2:n.-274A>G
ENST00000489175.1:n.284A>G
ENST00000611936.1:c.-163A>G	ENSP00000478215.1:n.-163A>G
NM_000219.5:c.-274A>G	NP_000210.2:n.-274A>G
NM_001270402.2:c.-274A>G	NP_001257331.1:n.-274A>G
NM_001270403.2:c.-246A>G	NP_001257332.1:n.-246A>G
NM_001270404.2:c.-163A>G	NP_001257333.1:n.-163A>G
XM_011529557.1:c.56A>G	XP_011527859.1:p.Lys19Arg
NM_000219.6:c.-274A>G MANE Select	NP_000210.2:n.-274A>G
NM_001270402.3:c.-274A>G	NP_001257331.1:n.-274A>G
NM_001270404.3:c.-163A>G	NP_001257333.1:n.-163A>G