Canonical Allele Identifier: CA351121553
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000281830.4:c.439C>G MANE Select ENSP00000281830.5:p.Leu147Val
ENST00000281830.3:c.592C>G ENSP00000281830.4:p.Leu198Val
ENST00000488477.2:n.75+995C>G
NM_080671.3:c.592C>G NP_542402.3:p.Leu198Val
NM_080671.4:c.439C>G MANE Select NP_542402.4:p.Leu147Val