Canonical Allele Identifier: CA1139660308

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 979201
• ClinVar RCV Id: RCV001258354
• dbSNP Id: rs1801136696

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951100del , CM000669.2:g.150951100del	GRCh38
NC_000007.13:g.150648188del , CM000669.1:g.150648188del	GRCh37
NC_000007.12:g.150279121del	NCBI36
NG_008916.1:g.31828del , LRG_288:g.31828del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1265del
ENST00000683359.1:n.91del
ENST00000684241.1:n.2800del
ENST00000262186.10:c.1967del MANE Select	ENSP00000262186.5:p.Phe656SerfsTer?
ENST00000330883.9:c.947del	ENSP00000328531.4:p.Phe316SerfsTer?
ENST00000262186.9:c.1967del	ENSP00000262186.5:p.Phe656SerfsTer?
ENST00000330883.8:c.947del	ENSP00000328531.4:p.Phe316SerfsTer?
ENST00000430723.4:c.1619del	ENSP00000387657.4:p.Phe540SerfsTer?
ENST00000461280.1:n.1254del
ENST00000473610.5:n.1599del
ENST00000532957.5:n.2190del
NM_000238.3:c.1967del , LRG_288t1:c.1967del	NP_000229.1:p.Phe656SerfsTer?
NM_001204798.1:c.947del	NP_001191727.1:p.Phe316SerfsTer?
NM_172056.2:c.1967del , LRG_288t2:c.1967del	NP_742053.1:p.Phe656SerfsTer?
NM_172057.2:c.947del , LRG_288t3:c.947del	NP_742054.1:p.Phe316SerfsTer?
XM_011516185.1:c.1667del	XP_011514487.1:p.Phe556SerfsTer?
XM_011516186.1:c.1967del	XP_011514488.1:p.Phe656SerfsTer?
XM_011516185.2:c.1667del	XP_011514487.1:p.Phe556SerfsTer?
XM_011516186.3:c.1967del	XP_011514488.1:p.Phe656SerfsTer?
XM_017012195.1:c.1817del	XP_016867684.1:p.Phe606SerfsTer?
XM_017012196.1:c.1790del	XP_016867685.1:p.Phe597SerfsTer?
NM_000238.4:c.1967del MANE Select	NP_000229.1:p.Phe656SerfsTer?
NM_001204798.2:c.947del	NP_001191727.1:p.Phe316SerfsTer?
NM_172057.3:c.947del	NP_742054.1:p.Phe316SerfsTer?