Canonical Allele Identifier: CA030942

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 671018
• ClinVar RCV Id: RCV000830193
• dbSNP Id: rs2072413
• ExAC: 7:150647969 C / T
• gnomAD v2: 7-150647969-C-T
• gnomAD v3: 7-150950881-C-T
• gnomAD v4: 7-150950881-C-T
• MyVariant Identifiers: chr7:g.150647969C>T (hg19) ; chr7:g.150950881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950881C>T , CM000669.2:g.150950881C>T	GRCh38
NC_000007.13:g.150647969C>T , CM000669.1:g.150647969C>T	GRCh37
NC_000007.12:g.150278902C>T	NCBI36
NG_008916.1:g.32046G>A , LRG_288:g.32046G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+40G>A
ENST00000683359.1:n.309G>A
ENST00000684241.1:n.2978+40G>A
ENST00000262186.10:c.2145+40G>A MANE Select	ENSP00000262186.5:n.2145+40G>A
ENST00000330883.9:c.1125+40G>A	ENSP00000328531.4:n.1125+40G>A
ENST00000262186.9:c.2145+40G>A	ENSP00000262186.5:n.2145+40G>A
ENST00000330883.8:c.1125+40G>A	ENSP00000328531.4:n.1125+40G>A
ENST00000430723.4:c.1797+40G>A	ENSP00000387657.4:n.1797+40G>A
ENST00000461280.1:n.1432+40G>A
ENST00000473610.5:n.1777+40G>A
ENST00000532957.5:n.2368+40G>A
NM_000238.3:c.2145+40G>A , LRG_288t1:c.2145+40G>A	NP_000229.1:n.2145+40G>A
NM_001204798.1:c.1125+40G>A	NP_001191727.1:n.1125+40G>A
NM_172056.2:c.2145+40G>A , LRG_288t2:c.2145+40G>A	NP_742053.1:n.2145+40G>A
NM_172057.2:c.1125+40G>A , LRG_288t3:c.1125+40G>A	NP_742054.1:n.1125+40G>A
XM_011516185.1:c.1845+40G>A	XP_011514487.1:n.1845+40G>A
XM_011516186.1:c.2145+40G>A	XP_011514488.1:n.2145+40G>A
XM_011516185.2:c.1845+40G>A	XP_011514487.1:n.1845+40G>A
XM_011516186.3:c.2145+40G>A	XP_011514488.1:n.2145+40G>A
XM_017012195.1:c.1995+40G>A	XP_016867684.1:n.1995+40G>A
XM_017012196.1:c.1968+40G>A	XP_016867685.1:n.1968+40G>A
NM_000238.4:c.2145+40G>A MANE Select	NP_000229.1:n.2145+40G>A
NM_001204798.2:c.1125+40G>A	NP_001191727.1:n.1125+40G>A
NM_172057.3:c.1125+40G>A	NP_742054.1:n.1125+40G>A