Canonical Allele Identifier: CA004191

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200319
• ClinVar RCV Id: RCV000181778 ; RCV001342668 ; RCV002399645
• dbSNP Id: rs794728363
• gnomAD v4: 7-150957376-A-T
• MyVariant Identifiers: chr7:g.150654464A>T (hg19) ; chr7:g.150957376A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957376A>T , CM000669.2:g.150957376A>T	GRCh38
NC_000007.13:g.150654464A>T , CM000669.1:g.150654464A>T	GRCh37
NC_000007.12:g.150285397A>T	NCBI36
NG_008916.1:g.25551T>A , LRG_288:g.25551T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1876T>A
ENST00000262186.10:c.1043T>A MANE Select	ENSP00000262186.5:p.Phe348Tyr
ENST00000262186.9:c.1043T>A	ENSP00000262186.5:p.Phe348Tyr
ENST00000430723.4:c.695T>A	ENSP00000387657.4:p.Phe232Tyr
ENST00000532957.5:n.1266T>A
NM_000238.3:c.1043T>A , LRG_288t1:c.1043T>A	NP_000229.1:p.Phe348Tyr
NM_172056.2:c.1043T>A , LRG_288t2:c.1043T>A	NP_742053.1:p.Phe348Tyr
XM_011516185.1:c.743T>A	XP_011514487.1:p.Phe248Tyr
XM_011516186.1:c.1043T>A	XP_011514488.1:p.Phe348Tyr
XM_011516185.2:c.743T>A	XP_011514487.1:p.Phe248Tyr
XM_011516186.3:c.1043T>A	XP_011514488.1:p.Phe348Tyr
XM_017012195.1:c.893T>A	XP_016867684.1:p.Phe298Tyr
XM_017012196.1:c.866T>A	XP_016867685.1:p.Phe289Tyr
NM_000238.4:c.1043T>A MANE Select	NP_000229.1:p.Phe348Tyr