Canonical Allele Identifier: CA331973
Gene: KCNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132682
dbSNP Id: rs199473350
MyVariant Identifiers: chr21:g.34449552G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34449552G>A , CM000683.2:g.34449552G>A GRCh38
NG_009091.1:g.66764C>T , LRG_290:g.66764C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399286.3:c.83C>T MANE Select ENSP00000382226.2:p.Ser28Leu
ENST00000337385.7:c.83C>T ENSP00000337255.3:p.Ser28Leu
ENST00000399284.1:c.83C>T ENSP00000382225.1:p.Ser28Leu
ENST00000399286.2:c.83C>T ENSP00000382226.2:p.Ser28Leu
ENST00000399289.7:c.83C>T ENSP00000382228.3:p.Ser28Leu
ENST00000416357.6:c.83C>T ENSP00000416258.2:p.Ser28Leu
ENST00000432085.5:c.83C>T ENSP00000412498.1:p.Ser28Leu
ENST00000611936.1:c.83C>T ENSP00000478215.1:p.Ser28Leu
ENST00000621601.4:c.83C>T ENSP00000483895.1:p.Ser28Leu
NM_000219.5:c.83C>T NP_000210.2:p.Ser28Leu
NM_001127668.3:c.83C>T NP_001121140.1:p.Ser28Leu
NM_001127669.3:c.83C>T NP_001121141.1:p.Ser28Leu
NM_001127670.3:c.83C>T NP_001121142.1:p.Ser28Leu
NM_001270402.2:c.83C>T NP_001257331.1:p.Ser28Leu
NM_001270403.2:c.83C>T NP_001257332.1:p.Ser28Leu
NM_001270404.2:c.83C>T NP_001257333.1:p.Ser28Leu
NM_001270405.2:c.83C>T NP_001257334.1:p.Ser28Leu
XM_011529555.1:c.13+5834C>T XP_011527857.1:n.13+5834C>T
XM_011529557.1:c.279+9102C>T XP_011527859.1:n.279+9102C>T
XM_017028342.1:c.146C>T XP_016883831.1:p.Ser49Leu
NM_000219.6:c.83C>T MANE Select NP_000210.2:p.Ser28Leu
NM_001127669.4:c.83C>T NP_001121141.1:p.Ser28Leu
NM_001127668.4:c.83C>T NP_001121140.1:p.Ser28Leu
NM_001127670.4:c.83C>T NP_001121142.1:p.Ser28Leu
NM_001270402.3:c.83C>T NP_001257331.1:p.Ser28Leu
NM_001270404.3:c.83C>T NP_001257333.1:p.Ser28Leu
NM_001270405.3:c.83C>T NP_001257334.1:p.Ser28Leu