Canonical Allele Identifier: CA539515971
Gene: KCNE4 HGNC NCBI

Linked Data

dbSNP Id: rs1189741651
gnomAD v2: 2-223918099-C-G
gnomAD v4: 2-223053381-C-G
MyVariant Identifiers: chr2:g.223918099C>G (hg19) chr2:g.223053381C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053381C>G , CM000664.2:g.223053381C>G GRCh38
NC_000002.11:g.223918099C>G , CM000664.1:g.223918099C>G GRCh37
NC_000002.10:g.223626343C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.*38C>G MANE Select ENSP00000281830.5:n.*38C>G
ENST00000281830.3:c.*38C>G ENSP00000281830.4:n.*38C>G
ENST00000488477.2:n.75+1107C>G
NM_080671.3:c.*38C>G NP_542402.3:n.*38C>G
NM_080671.4:c.*38C>G MANE Select NP_542402.4:n.*38C>G
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