Canonical Allele Identifier: CA004231

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200721
• ClinVar RCV Id: RCV000182018 ; RCV000706917
• dbSNP Id: rs794728478
• gnomAD v2: 7-150649942-C-T
• gnomAD v4: 7-150952854-C-T
• MyVariant Identifiers: chr7:g.150649942C>T (hg19) ; chr7:g.150952854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952854C>T , CM000669.2:g.150952854C>T	GRCh38
NC_000007.13:g.150649942C>T , CM000669.1:g.150649942C>T	GRCh37
NC_000007.12:g.150280875C>T	NCBI36
NG_008916.1:g.30073G>A , LRG_288:g.30073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.427-1G>A
ENST00000684116.1:n.21G>A
ENST00000684241.1:n.1962-1G>A
ENST00000262186.10:c.1129-1G>A MANE Select	ENSP00000262186.5:n.1129-1G>A
ENST00000330883.9:c.109-1G>A	ENSP00000328531.4:n.109-1G>A
ENST00000262186.9:c.1129-1G>A	ENSP00000262186.5:n.1129-1G>A
ENST00000330883.8:c.109-1G>A	ENSP00000328531.4:n.109-1G>A
ENST00000430723.4:c.781-1G>A	ENSP00000387657.4:n.781-1G>A
ENST00000461280.1:n.416-1G>A
ENST00000473610.5:n.434-1G>A
ENST00000532957.5:n.1352-1G>A
NM_000238.3:c.1129-1G>A , LRG_288t1:c.1129-1G>A	NP_000229.1:n.1129-1G>A
NM_001204798.1:c.109-1G>A	NP_001191727.1:n.109-1G>A
NM_172056.2:c.1129-1G>A , LRG_288t2:c.1129-1G>A	NP_742053.1:n.1129-1G>A
NM_172057.2:c.109-1G>A , LRG_288t3:c.109-1G>A	NP_742054.1:n.109-1G>A
XM_011516185.1:c.829-1G>A	XP_011514487.1:n.829-1G>A
XM_011516186.1:c.1129-1G>A	XP_011514488.1:n.1129-1G>A
XM_011516185.2:c.829-1G>A	XP_011514487.1:n.829-1G>A
XM_011516186.3:c.1129-1G>A	XP_011514488.1:n.1129-1G>A
XM_017012195.1:c.979-1G>A	XP_016867684.1:n.979-1G>A
XM_017012196.1:c.952-1G>A	XP_016867685.1:n.952-1G>A
NM_000238.4:c.1129-1G>A MANE Select	NP_000229.1:n.1129-1G>A
NM_001204798.2:c.109-1G>A	NP_001191727.1:n.109-1G>A
NM_172057.3:c.109-1G>A	NP_742054.1:n.109-1G>A