Canonical Allele Identifier: CA320427736

Gene: KCNE1

Linked Data

• dbSNP Id: rs563910117
• MyVariant Identifiers: chr21:g.34458737C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34458737C>A , CM000683.2:g.34458737C>A	GRCh38
NG_009091.1:g.57579G>T , LRG_290:g.57579G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399286.3:c.-134G>T MANE Select	ENSP00000382226.2:n.-134G>T
ENST00000337385.7:c.-134G>T	ENSP00000337255.3:n.-134G>T
ENST00000399284.1:c.-133-1G>T	ENSP00000382225.1:n.-133-1G>T
ENST00000399286.2:c.-134G>T	ENSP00000382226.2:n.-134G>T
ENST00000399289.7:c.-133-1G>T	ENSP00000382228.3:n.-133-1G>T
ENST00000432085.5:c.-134G>T	ENSP00000412498.1:n.-134G>T
ENST00000611936.1:c.-50-9053G>T	ENSP00000478215.1:n.-50-9053G>T
ENST00000621601.4:c.-134G>T	ENSP00000483895.1:n.-134G>T
NM_000219.5:c.-134G>T	NP_000210.2:n.-134G>T
NM_001127668.3:c.-134G>T	NP_001121140.1:n.-134G>T
NM_001127669.3:c.-133-1G>T	NP_001121141.1:n.-133-1G>T
NM_001270402.2:c.-134G>T	NP_001257331.1:n.-134G>T
NM_001270403.2:c.-133-1G>T	NP_001257332.1:n.-133-1G>T
NM_001270404.2:c.-50-9053G>T	NP_001257333.1:n.-50-9053G>T
NM_001270405.2:c.-134G>T	NP_001257334.1:n.-134G>T
XM_011529557.1:c.196G>T	XP_011527859.1:p.Val66Phe
NM_000219.6:c.-134G>T MANE Select	NP_000210.2:n.-134G>T
NM_001127669.4:c.-133-1G>T	NP_001121141.1:n.-133-1G>T
NM_001127668.4:c.-134G>T	NP_001121140.1:n.-134G>T
NM_001270402.3:c.-134G>T	NP_001257331.1:n.-134G>T
NM_001270404.3:c.-50-9053G>T	NP_001257333.1:n.-50-9053G>T
NM_001270405.3:c.-134G>T	NP_001257334.1:n.-134G>T