Canonical Allele Identifier: CA2137860

Gene: KCNE4

Linked Data

• dbSNP Id: rs12621643
• ExAC: 2:223917983 T / G
• gnomAD v2: 2-223917983-T-G
• gnomAD v3: 2-223053265-T-G
• gnomAD v4: 2-223053265-T-G
• MyVariant Identifiers: chr2:g.223917983T>G (hg19) ; chr2:g.223053265T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223053265T>G , CM000664.2:g.223053265T>G	GRCh38
NC_000002.11:g.223917983T>G , CM000664.1:g.223917983T>G	GRCh37
NC_000002.10:g.223626227T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000281830.4:c.435T>G MANE Select	ENSP00000281830.5:p.Asp145Glu
ENST00000281830.3:c.588T>G	ENSP00000281830.4:p.Asp196Glu
ENST00000488477.2:n.75+991T>G
NM_080671.3:c.588T>G	NP_542402.3:p.Asp196Glu
NM_080671.4:c.435T>G MANE Select	NP_542402.4:p.Asp145Glu