Canonical Allele Identifier: CA16605169

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 392690
• ClinVar RCV Id: RCV000444524
• dbSNP Id: rs1057524595
• MyVariant Identifiers: chr7:g.150648630G>T (hg19) ; chr7:g.150951542G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951542G>T , CM000669.2:g.150951542G>T	GRCh38
NC_000007.13:g.150648630G>T , CM000669.1:g.150648630G>T	GRCh37
NC_000007.12:g.150279563G>T	NCBI36
NG_008916.1:g.31385C>A , LRG_288:g.31385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1149C>A
ENST00000684241.1:n.2684C>A
ENST00000262186.10:c.1851C>A MANE Select	ENSP00000262186.5:p.Phe617Leu
ENST00000330883.9:c.831C>A	ENSP00000328531.4:p.Phe277Leu
ENST00000262186.9:c.1851C>A	ENSP00000262186.5:p.Phe617Leu
ENST00000330883.8:c.831C>A	ENSP00000328531.4:p.Phe277Leu
ENST00000430723.4:c.1503C>A	ENSP00000387657.4:p.Phe501Leu
ENST00000461280.1:n.1138C>A
ENST00000473610.5:n.1156C>A
ENST00000532957.5:n.2074C>A
NM_000238.3:c.1851C>A , LRG_288t1:c.1851C>A	NP_000229.1:p.Phe617Leu
NM_001204798.1:c.831C>A	NP_001191727.1:p.Phe277Leu
NM_172056.2:c.1851C>A , LRG_288t2:c.1851C>A	NP_742053.1:p.Phe617Leu
NM_172057.2:c.831C>A , LRG_288t3:c.831C>A	NP_742054.1:p.Phe277Leu
XM_011516185.1:c.1551C>A	XP_011514487.1:p.Phe517Leu
XM_011516186.1:c.1851C>A	XP_011514488.1:p.Phe617Leu
XM_011516185.2:c.1551C>A	XP_011514487.1:p.Phe517Leu
XM_011516186.3:c.1851C>A	XP_011514488.1:p.Phe617Leu
XM_017012195.1:c.1701C>A	XP_016867684.1:p.Phe567Leu
XM_017012196.1:c.1674C>A	XP_016867685.1:p.Phe558Leu
NM_000238.4:c.1851C>A MANE Select	NP_000229.1:p.Phe617Leu
NM_001204798.2:c.831C>A	NP_001191727.1:p.Phe277Leu
NM_172057.3:c.831C>A	NP_742054.1:p.Phe277Leu