Canonical Allele Identifier: CA431595346
Gene: KCNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.223917987C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053269C>T , CM000664.2:g.223053269C>T GRCh38
NC_000002.11:g.223917987C>T , CM000664.1:g.223917987C>T GRCh37
NC_000002.10:g.223626231C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.439C>T MANE Select ENSP00000281830.5:p.Leu147=
ENST00000281830.3:c.592C>T ENSP00000281830.4:p.Leu198=
ENST00000488477.2:n.75+995C>T
NM_080671.3:c.592C>T NP_542402.3:p.Leu198=
NM_080671.4:c.439C>T MANE Select NP_542402.4:p.Leu147=