Canonical Allele Identifier: CA351121349
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053177C>T , CM000664.2:g.223053177C>T GRCh38
NC_000002.11:g.223917895C>T , CM000664.1:g.223917895C>T GRCh37
NC_000002.10:g.223626139C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.347C>T MANE Select ENSP00000281830.5:p.Thr116Ile
ENST00000281830.3:c.500C>T ENSP00000281830.4:p.Thr167Ile
ENST00000488477.2:n.75+903C>T
NM_080671.3:c.500C>T NP_542402.3:p.Thr167Ile
NM_080671.4:c.347C>T MANE Select NP_542402.4:p.Thr116Ile