Canonical Allele Identifier: CA004263

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67165
• ClinVar RCV Id: RCV000057872
• dbSNP Id: rs199472891
• MyVariant Identifiers: chr7:g.150649871A>T (hg19) ; chr7:g.150952783A>T (hg38)
• PubMed: PMID:11468227 ; PMID:16937190 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952783A>T , CM000669.2:g.150952783A>T	GRCh38
NC_000007.13:g.150649871A>T , CM000669.1:g.150649871A>T	GRCh37
NC_000007.12:g.150280804A>T	NCBI36
NG_008916.1:g.30144T>A , LRG_288:g.30144T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.497T>A
ENST00000684116.1:n.92T>A
ENST00000684241.1:n.2032T>A
ENST00000262186.10:c.1199T>A MANE Select	ENSP00000262186.5:p.Ile400Asn
ENST00000330883.9:c.179T>A	ENSP00000328531.4:p.Ile60Asn
ENST00000262186.9:c.1199T>A	ENSP00000262186.5:p.Ile400Asn
ENST00000330883.8:c.179T>A	ENSP00000328531.4:p.Ile60Asn
ENST00000430723.4:c.851T>A	ENSP00000387657.4:p.Ile284Asn
ENST00000461280.1:n.486T>A
ENST00000473610.5:n.504T>A
ENST00000532957.5:n.1422T>A
NM_000238.3:c.1199T>A , LRG_288t1:c.1199T>A	NP_000229.1:p.Ile400Asn
NM_001204798.1:c.179T>A	NP_001191727.1:p.Ile60Asn
NM_172056.2:c.1199T>A , LRG_288t2:c.1199T>A	NP_742053.1:p.Ile400Asn
NM_172057.2:c.179T>A , LRG_288t3:c.179T>A	NP_742054.1:p.Ile60Asn
XM_011516185.1:c.899T>A	XP_011514487.1:p.Ile300Asn
XM_011516186.1:c.1199T>A	XP_011514488.1:p.Ile400Asn
XM_011516185.2:c.899T>A	XP_011514487.1:p.Ile300Asn
XM_011516186.3:c.1199T>A	XP_011514488.1:p.Ile400Asn
XM_017012195.1:c.1049T>A	XP_016867684.1:p.Ile350Asn
XM_017012196.1:c.1022T>A	XP_016867685.1:p.Ile341Asn
NM_000238.4:c.1199T>A MANE Select	NP_000229.1:p.Ile400Asn
NM_001204798.2:c.179T>A	NP_001191727.1:p.Ile60Asn
NM_172057.3:c.179T>A	NP_742054.1:p.Ile60Asn