Canonical Allele Identifier: CA600393531

Gene: KCNE3

Linked Data

• ClinVar Variation Id: 3016290
• ClinVar RCV Id: RCV003876441
• dbSNP Id: rs1476781635
• gnomAD v2: 11-74168329-CAT-C
• gnomAD v3: 11-74457284-CAT-C
• gnomAD v4: 11-74457284-CAT-C
• MyVariant Identifiers: chr11:g.74168330_74168331del (hg19) ; chr11:g.74457285_74457286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74457285_74457286del , CM000673.2:g.74457285_74457286del	GRCh38
NC_000011.9:g.74168330_74168331del , CM000673.1:g.74168330_74168331del	GRCh37
NC_000011.8:g.73845978_73845979del	NCBI36
NG_011833.1:g.15270_15271del , LRG_439:g.15270_15271del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310128.9:c.278_279del MANE Select	ENSP00000310557.4:p.His93ArgfsTer?
ENST00000310128.8:c.278_279del	ENSP00000310557.4:p.His93ArgfsTer?
ENST00000525550.1:c.278_279del	ENSP00000433633.1:p.His93ArgfsTer?
ENST00000532569.5:c.278_279del	ENSP00000431739.1:p.His93ArgfsTer?
NM_005472.4:c.278_279del , LRG_439t1:c.278_279del	NP_005463.1:p.His93ArgfsTer?
XM_011544713.1:c.410_411del	XP_011543015.1:p.His137ArgfsTer?
XM_011544713.2:c.410_411del	XP_011543015.1:p.His137ArgfsTer?
XM_017017047.1:c.278_279del	XP_016872536.1:p.His93ArgfsTer?
XM_017017048.1:c.278_279del	XP_016872537.1:p.His93ArgfsTer?
XM_017017049.1:c.278_279del	XP_016872538.1:p.His93ArgfsTer?
XM_017017051.2:c.278_279del	XP_016872540.1:p.His93ArgfsTer?
XM_017017052.1:c.278_279del	XP_016872541.1:p.His93ArgfsTer?
NM_005472.5:c.278_279del MANE Select	NP_005463.1:p.His93ArgfsTer?