Canonical Allele Identifier: CA748854414

Gene: KCNE1

Linked Data

• dbSNP Id: rs1408422870
• gnomAD v3: 21-34511206-G-T
• gnomAD v4: 21-34511206-G-T
• MyVariant Identifiers: chr21:g.35883504G>T (hg19) ; chr21:g.34511206G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34511206G>T , CM000683.2:g.34511206G>T	GRCh38
NC_000021.8:g.35883504G>T , CM000683.1:g.35883504G>T	GRCh37
NC_000021.7:g.34805374G>T	NCBI36
NG_009091.1:g.5110C>A , LRG_290:g.5110C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682732.1:n.866C>A
ENST00000683028.1:n.297C>A
ENST00000683564.1:n.298C>A
ENST00000684073.1:n.298C>A
ENST00000684114.1:c.790C>A
ENST00000684327.1:n.298C>A
ENST00000684541.1:c.*279C>A	ENSP00000508287.1:n.*279C>A
ENST00000684616.1:n.359C>A
ENST00000399286.3:c.-267C>A MANE Select	ENSP00000382226.2:n.-267C>A
ENST00000337385.7:c.-267C>A	ENSP00000337255.3:n.-267C>A
ENST00000399284.1:c.-239C>A	ENSP00000382225.1:n.-239C>A
ENST00000399286.2:c.-267C>A	ENSP00000382226.2:n.-267C>A
ENST00000489175.1:n.291C>A
ENST00000611936.1:c.-156C>A	ENSP00000478215.1:n.-156C>A
NM_000219.5:c.-267C>A	NP_000210.2:n.-267C>A
NM_001270402.2:c.-267C>A	NP_001257331.1:n.-267C>A
NM_001270403.2:c.-239C>A	NP_001257332.1:n.-239C>A
NM_001270404.2:c.-156C>A	NP_001257333.1:n.-156C>A
XM_011529557.1:c.63C>A	XP_011527859.1:p.Asn21Lys
NM_000219.6:c.-267C>A MANE Select	NP_000210.2:n.-267C>A
NM_001270402.3:c.-267C>A	NP_001257331.1:n.-267C>A
NM_001270404.3:c.-156C>A	NP_001257333.1:n.-156C>A