Canonical Allele Identifier: CA027326

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 851410
• ClinVar RCV Id: RCV001055801 ; RCV001842602 ; RCV002339278 ; RCV002479339 ; RCV004553599
• dbSNP Id: rs368817970
• ExAC: 7:150649880 C / T
• gnomAD v2: 7-150649880-C-T
• gnomAD v3: 7-150952792-C-T
• gnomAD v4: 7-150952792-C-T
• MyVariant Identifiers: chr7:g.150649880C>T (hg19) ; chr7:g.150952792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952792C>T , CM000669.2:g.150952792C>T	GRCh38
NC_000007.13:g.150649880C>T , CM000669.1:g.150649880C>T	GRCh37
NC_000007.12:g.150280813C>T	NCBI36
NG_008916.1:g.30135G>A , LRG_288:g.30135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.488G>A
ENST00000684116.1:n.83G>A
ENST00000684241.1:n.2023G>A
ENST00000262186.10:c.1190G>A MANE Select	ENSP00000262186.5:p.Arg397His
ENST00000330883.9:c.170G>A	ENSP00000328531.4:p.Arg57His
ENST00000262186.9:c.1190G>A	ENSP00000262186.5:p.Arg397His
ENST00000330883.8:c.170G>A	ENSP00000328531.4:p.Arg57His
ENST00000430723.4:c.842G>A	ENSP00000387657.4:p.Arg281His
ENST00000461280.1:n.477G>A
ENST00000473610.5:n.495G>A
ENST00000532957.5:n.1413G>A
NM_000238.3:c.1190G>A , LRG_288t1:c.1190G>A	NP_000229.1:p.Arg397His
NM_001204798.1:c.170G>A	NP_001191727.1:p.Arg57His
NM_172056.2:c.1190G>A , LRG_288t2:c.1190G>A	NP_742053.1:p.Arg397His
NM_172057.2:c.170G>A , LRG_288t3:c.170G>A	NP_742054.1:p.Arg57His
XM_011516185.1:c.890G>A	XP_011514487.1:p.Arg297His
XM_011516186.1:c.1190G>A	XP_011514488.1:p.Arg397His
XM_011516185.2:c.890G>A	XP_011514487.1:p.Arg297His
XM_011516186.3:c.1190G>A	XP_011514488.1:p.Arg397His
XM_017012195.1:c.1040G>A	XP_016867684.1:p.Arg347His
XM_017012196.1:c.1013G>A	XP_016867685.1:p.Arg338His
NM_000238.4:c.1190G>A MANE Select	NP_000229.1:p.Arg397His
NM_001204798.2:c.170G>A	NP_001191727.1:p.Arg57His
NM_172057.3:c.170G>A	NP_742054.1:p.Arg57His