Canonical Allele Identifier: CA2685610451

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952691-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952693del , CM000669.2:g.150952693del	GRCh38
NC_000007.13:g.150649781del , CM000669.1:g.150649781del	GRCh37
NC_000007.12:g.150280714del	NCBI36
NG_008916.1:g.30235del , LRG_288:g.30235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.588del
ENST00000684116.1:n.183del
ENST00000684241.1:n.2123del
ENST00000262186.10:c.1290del MANE Select	ENSP00000262186.5:p.Phe431SerfsTer3
ENST00000330883.9:c.270del	ENSP00000328531.4:p.Phe91SerfsTer3
ENST00000262186.9:c.1290del	ENSP00000262186.5:p.Phe431SerfsTer3
ENST00000330883.8:c.270del	ENSP00000328531.4:p.Phe91SerfsTer3
ENST00000430723.4:c.942del	ENSP00000387657.4:p.Phe315SerfsTer3
ENST00000461280.1:n.577del
ENST00000473610.5:n.595del
ENST00000532957.5:n.1513del
NM_000238.3:c.1290del , LRG_288t1:c.1290del	NP_000229.1:p.Phe431SerfsTer3
NM_001204798.1:c.270del	NP_001191727.1:p.Phe91SerfsTer3
NM_172056.2:c.1290del , LRG_288t2:c.1290del	NP_742053.1:p.Phe431SerfsTer3
NM_172057.2:c.270del , LRG_288t3:c.270del	NP_742054.1:p.Phe91SerfsTer3
XM_011516185.1:c.990del	XP_011514487.1:p.Phe331SerfsTer3
XM_011516186.1:c.1290del	XP_011514488.1:p.Phe431SerfsTer3
XM_011516185.2:c.990del	XP_011514487.1:p.Phe331SerfsTer3
XM_011516186.3:c.1290del	XP_011514488.1:p.Phe431SerfsTer3
XM_017012195.1:c.1140del	XP_016867684.1:p.Phe381SerfsTer3
XM_017012196.1:c.1113del	XP_016867685.1:p.Phe372SerfsTer3
NM_000238.4:c.1290del MANE Select	NP_000229.1:p.Phe431SerfsTer3
NM_001204798.2:c.270del	NP_001191727.1:p.Phe91SerfsTer3
NM_172057.3:c.270del	NP_742054.1:p.Phe91SerfsTer3