Canonical Allele Identifier: CA320436803

Gene: KCNE1

Linked Data

• dbSNP Id: rs182947363
• gnomAD v2: 21-35880145-A-G
• gnomAD v3: 21-34507847-A-G
• gnomAD v4: 21-34507847-A-G
• MyVariant Identifiers: chr21:g.35880145A>G (hg19) ; chr21:g.34507847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34507847A>G , CM000683.2:g.34507847A>G	GRCh38
NC_000021.8:g.35880145A>G , CM000683.1:g.35880145A>G	GRCh37
NC_000021.7:g.34802015A>G	NCBI36
NG_009091.1:g.8469T>C , LRG_290:g.8469T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683028.1:n.403-2089T>C
ENST00000683564.1:n.403+3254T>C
ENST00000684073.1:n.404-2089T>C
ENST00000684327.1:n.403+3254T>C
ENST00000684616.1:n.465-2089T>C
ENST00000399286.3:c.-162+3254T>C MANE Select	ENSP00000382226.2:n.-162+3254T>C
ENST00000337385.7:c.-162+3254T>C	ENSP00000337255.3:n.-162+3254T>C
ENST00000399284.1:c.-134+3254T>C	ENSP00000382225.1:n.-134+3254T>C
ENST00000399286.2:c.-162+3254T>C	ENSP00000382226.2:n.-162+3254T>C
ENST00000611936.1:c.-51+3254T>C	ENSP00000478215.1:n.-51+3254T>C
NM_000219.5:c.-162+3254T>C	NP_000210.2:n.-162+3254T>C
NM_001270402.2:c.-162+3254T>C	NP_001257331.1:n.-162+3254T>C
NM_001270403.2:c.-134+3254T>C	NP_001257332.1:n.-134+3254T>C
NM_001270404.2:c.-51+3254T>C	NP_001257333.1:n.-51+3254T>C
XM_011529557.1:c.168+3254T>C	XP_011527859.1:n.168+3254T>C
NM_000219.6:c.-162+3254T>C MANE Select	NP_000210.2:n.-162+3254T>C
NM_001270402.3:c.-162+3254T>C	NP_001257331.1:n.-162+3254T>C
NM_001270404.3:c.-51+3254T>C	NP_001257333.1:n.-51+3254T>C