Canonical Allele Identifier: CA004292

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200329
• ClinVar RCV Id: RCV000181783 ; RCV000618504
• dbSNP Id: rs794728367
• MyVariant Identifiers: chr7:g.150649844A>T (hg19) ; chr7:g.150952756A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952756A>T , CM000669.2:g.150952756A>T	GRCh38
NC_000007.13:g.150649844A>T , CM000669.1:g.150649844A>T	GRCh37
NC_000007.12:g.150280777A>T	NCBI36
NG_008916.1:g.30171T>A , LRG_288:g.30171T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.524T>A
ENST00000684116.1:n.119T>A
ENST00000684241.1:n.2059T>A
ENST00000262186.10:c.1226T>A MANE Select	ENSP00000262186.5:p.Val409Glu
ENST00000330883.9:c.206T>A	ENSP00000328531.4:p.Val69Glu
ENST00000262186.9:c.1226T>A	ENSP00000262186.5:p.Val409Glu
ENST00000330883.8:c.206T>A	ENSP00000328531.4:p.Val69Glu
ENST00000430723.4:c.878T>A	ENSP00000387657.4:p.Val293Glu
ENST00000461280.1:n.513T>A
ENST00000473610.5:n.531T>A
ENST00000532957.5:n.1449T>A
NM_000238.3:c.1226T>A , LRG_288t1:c.1226T>A	NP_000229.1:p.Val409Glu
NM_001204798.1:c.206T>A	NP_001191727.1:p.Val69Glu
NM_172056.2:c.1226T>A , LRG_288t2:c.1226T>A	NP_742053.1:p.Val409Glu
NM_172057.2:c.206T>A , LRG_288t3:c.206T>A	NP_742054.1:p.Val69Glu
XM_011516185.1:c.926T>A	XP_011514487.1:p.Val309Glu
XM_011516186.1:c.1226T>A	XP_011514488.1:p.Val409Glu
XM_011516185.2:c.926T>A	XP_011514487.1:p.Val309Glu
XM_011516186.3:c.1226T>A	XP_011514488.1:p.Val409Glu
XM_017012195.1:c.1076T>A	XP_016867684.1:p.Val359Glu
XM_017012196.1:c.1049T>A	XP_016867685.1:p.Val350Glu
NM_000238.4:c.1226T>A MANE Select	NP_000229.1:p.Val409Glu
NM_001204798.2:c.206T>A	NP_001191727.1:p.Val69Glu
NM_172057.3:c.206T>A	NP_742054.1:p.Val69Glu