Canonical Allele Identifier: CA539515972
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs774189539
gnomAD v2: 2-223918103-C-T
MyVariant Identifiers: chr2:g.223918103C>T (hg19) chr2:g.223053385C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053385C>T , CM000664.2:g.223053385C>T GRCh38
NC_000002.11:g.223918103C>T , CM000664.1:g.223918103C>T GRCh37
NC_000002.10:g.223626347C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.*42C>T MANE Select ENSP00000281830.5:n.*42C>T
ENST00000281830.3:c.*42C>T ENSP00000281830.4:n.*42C>T
ENST00000488477.2:n.75+1111C>T
NM_080671.3:c.*42C>T NP_542402.3:n.*42C>T
NM_080671.4:c.*42C>T MANE Select NP_542402.4:n.*42C>T
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