Canonical Allele Identifier: CA004257

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200327
• ClinVar RCV Id: RCV000181782 ; RCV001233303
• dbSNP Id: rs794728366
• COSMIC: COSM1087292 ; COSM1154788 ; COSM4868323
• MyVariant Identifiers: chr7:g.150649877C>T (hg19) ; chr7:g.150952789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952789C>T , CM000669.2:g.150952789C>T	GRCh38
NC_000007.13:g.150649877C>T , CM000669.1:g.150649877C>T	GRCh37
NC_000007.12:g.150280810C>T	NCBI36
NG_008916.1:g.30138G>A , LRG_288:g.30138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.491G>A
ENST00000684116.1:n.86G>A
ENST00000684241.1:n.2026G>A
ENST00000262186.10:c.1193G>A MANE Select	ENSP00000262186.5:p.Trp398Ter
ENST00000330883.9:c.173G>A	ENSP00000328531.4:p.Trp58Ter
ENST00000262186.9:c.1193G>A	ENSP00000262186.5:p.Trp398Ter
ENST00000330883.8:c.173G>A	ENSP00000328531.4:p.Trp58Ter
ENST00000430723.4:c.845G>A	ENSP00000387657.4:p.Trp282Ter
ENST00000461280.1:n.480G>A
ENST00000473610.5:n.498G>A
ENST00000532957.5:n.1416G>A
NM_000238.3:c.1193G>A , LRG_288t1:c.1193G>A	NP_000229.1:p.Trp398Ter
NM_001204798.1:c.173G>A	NP_001191727.1:p.Trp58Ter
NM_172056.2:c.1193G>A , LRG_288t2:c.1193G>A	NP_742053.1:p.Trp398Ter
NM_172057.2:c.173G>A , LRG_288t3:c.173G>A	NP_742054.1:p.Trp58Ter
XM_011516185.1:c.893G>A	XP_011514487.1:p.Trp298Ter
XM_011516186.1:c.1193G>A	XP_011514488.1:p.Trp398Ter
XM_011516185.2:c.893G>A	XP_011514487.1:p.Trp298Ter
XM_011516186.3:c.1193G>A	XP_011514488.1:p.Trp398Ter
XM_017012195.1:c.1043G>A	XP_016867684.1:p.Trp348Ter
XM_017012196.1:c.1016G>A	XP_016867685.1:p.Trp339Ter
NM_000238.4:c.1193G>A MANE Select	NP_000229.1:p.Trp398Ter
NM_001204798.2:c.173G>A	NP_001191727.1:p.Trp58Ter
NM_172057.3:c.173G>A	NP_742054.1:p.Trp58Ter