Canonical Allele Identifier: CA351121126

Gene: KCNE4

Linked Data

• dbSNP Id: rs928147314
• gnomAD v2: 2-223917789-G-A
• gnomAD v3: 2-223053071-G-A
• gnomAD v4: 2-223053071-G-A
• COSMIC: COSM139435
• MyVariant Identifiers: chr2:g.223917789G>A (hg19) ; chr2:g.223053071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223053071G>A , CM000664.2:g.223053071G>A	GRCh38
NC_000002.11:g.223917789G>A , CM000664.1:g.223917789G>A	GRCh37
NC_000002.10:g.223626033G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281830.4:c.241G>A MANE Select	ENSP00000281830.5:p.Gly81Arg
ENST00000281830.3:c.394G>A	ENSP00000281830.4:p.Gly132Arg
ENST00000488477.2:n.75+797G>A
NM_080671.3:c.394G>A	NP_542402.3:p.Gly132Arg
NM_080671.4:c.241G>A MANE Select	NP_542402.4:p.Gly81Arg