Canonical Allele Identifier: CA351121328
Gene: KCNE4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053168T>A , CM000664.2:g.223053168T>A GRCh38
NC_000002.11:g.223917886T>A , CM000664.1:g.223917886T>A GRCh37
NC_000002.10:g.223626130T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.338T>A MANE Select ENSP00000281830.5:p.Leu113Gln
ENST00000281830.3:c.491T>A ENSP00000281830.4:p.Leu164Gln
ENST00000488477.2:n.75+894T>A
NM_080671.3:c.491T>A NP_542402.3:p.Leu164Gln
NM_080671.4:c.338T>A MANE Select NP_542402.4:p.Leu113Gln