Canonical Allele Identifier: CA431669476
Gene: KCNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.223917836G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053118G>C , CM000664.2:g.223053118G>C GRCh38
NC_000002.11:g.223917836G>C , CM000664.1:g.223917836G>C GRCh37
NC_000002.10:g.223626080G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.288G>C MANE Select ENSP00000281830.5:p.Val96=
ENST00000281830.3:c.441G>C ENSP00000281830.4:p.Val147=
ENST00000488477.2:n.75+844G>C
NM_080671.3:c.441G>C NP_542402.3:p.Val147=
NM_080671.4:c.288G>C MANE Select NP_542402.4:p.Val96=
Search 100 bp 5'
Search 100 bp 3'