Canonical Allele Identifier: CA006478

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67388
• ClinVar RCV Id: RCV000058110
• dbSNP Id: rs199472996
• MyVariant Identifiers: chr7:g.150647300C>A (hg19) ; chr7:g.150950212C>A (hg38)
• PubMed: PMID:19926013 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950212C>A , CM000669.2:g.150950212C>A	GRCh38
NC_000007.13:g.150647300C>A , CM000669.1:g.150647300C>A	GRCh37
NC_000007.12:g.150278233C>A	NCBI36
NG_008916.1:g.32715G>T , LRG_288:g.32715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1652G>T
ENST00000684241.1:n.3187G>T
ENST00000262186.10:c.2354G>T MANE Select	ENSP00000262186.5:p.Gly785Val
ENST00000330883.9:c.1334G>T	ENSP00000328531.4:p.Gly445Val
ENST00000262186.9:c.2354G>T	ENSP00000262186.5:p.Gly785Val
ENST00000330883.8:c.1334G>T	ENSP00000328531.4:p.Gly445Val
ENST00000430723.4:c.2006G>T	ENSP00000387657.4:p.Gly669Val
ENST00000461280.1:n.1641G>T
ENST00000473610.5:n.1986G>T
ENST00000532957.5:n.2577G>T
NM_000238.3:c.2354G>T , LRG_288t1:c.2354G>T	NP_000229.1:p.Gly785Val
NM_001204798.1:c.1334G>T	NP_001191727.1:p.Gly445Val
NM_172056.2:c.2354G>T , LRG_288t2:c.2354G>T	NP_742053.1:p.Gly785Val
NM_172057.2:c.1334G>T , LRG_288t3:c.1334G>T	NP_742054.1:p.Gly445Val
XM_011516185.1:c.2054G>T	XP_011514487.1:p.Gly685Val
XM_011516186.1:c.2354G>T	XP_011514488.1:p.Gly785Val
XM_011516185.2:c.2054G>T	XP_011514487.1:p.Gly685Val
XM_011516186.3:c.2354G>T	XP_011514488.1:p.Gly785Val
XM_017012195.1:c.2204G>T	XP_016867684.1:p.Gly735Val
XM_017012196.1:c.2177G>T	XP_016867685.1:p.Gly726Val
NM_000238.4:c.2354G>T MANE Select	NP_000229.1:p.Gly785Val
NM_001204798.2:c.1334G>T	NP_001191727.1:p.Gly445Val
NM_172057.3:c.1334G>T	NP_742054.1:p.Gly445Val