Canonical Allele Identifier: CA320427718
Gene: KCNE1 HGNC NCBI

Linked Data

dbSNP Id: rs758405737
MyVariant Identifiers: chr21:g.34458659T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34458659T>C , CM000683.2:g.34458659T>C GRCh38
NG_009091.1:g.57657A>G , LRG_290:g.57657A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399286.3:c.-56A>G MANE Select ENSP00000382226.2:n.-56A>G
ENST00000337385.7:c.-56A>G ENSP00000337255.3:n.-56A>G
ENST00000399284.1:c.-56A>G ENSP00000382225.1:n.-56A>G
ENST00000399286.2:c.-56A>G ENSP00000382226.2:n.-56A>G
ENST00000399289.7:c.-56A>G ENSP00000382228.3:n.-56A>G
ENST00000432085.5:c.-56A>G ENSP00000412498.1:n.-56A>G
ENST00000611936.1:c.-50-8975A>G ENSP00000478215.1:n.-50-8975A>G
ENST00000621601.4:c.-56A>G ENSP00000483895.1:n.-56A>G
NM_000219.5:c.-56A>G NP_000210.2:n.-56A>G
NM_001127668.3:c.-56A>G NP_001121140.1:n.-56A>G
NM_001127669.3:c.-56A>G NP_001121141.1:n.-56A>G
NM_001270402.2:c.-56A>G NP_001257331.1:n.-56A>G
NM_001270403.2:c.-56A>G NP_001257332.1:n.-56A>G
NM_001270404.2:c.-50-8975A>G NP_001257333.1:n.-50-8975A>G
NM_001270405.2:c.-56A>G NP_001257334.1:n.-56A>G
XM_011529557.1:c.274A>G XP_011527859.1:p.Ile92Val
NM_000219.6:c.-56A>G MANE Select NP_000210.2:n.-56A>G
NM_001127669.4:c.-56A>G NP_001121141.1:n.-56A>G
NM_001127668.4:c.-56A>G NP_001121140.1:n.-56A>G
NM_001270402.3:c.-56A>G NP_001257331.1:n.-56A>G
NM_001270404.3:c.-50-8975A>G NP_001257333.1:n.-50-8975A>G
NM_001270405.3:c.-56A>G NP_001257334.1:n.-56A>G