Canonical Allele Identifier: CA004393

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67179
• ClinVar RCV Id: RCV000057886 ; RCV000584803
• dbSNP Id: rs199472897
• MyVariant Identifiers: chr7:g.150649790T>C (hg19) ; chr7:g.150952702T>C (hg38)
• PubMed: PMID:19716085 ; PMID:22581653 ; PMID:26669661 ; PMID:27920829

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952702T>C , CM000669.2:g.150952702T>C	GRCh38
NC_000007.13:g.150649790T>C , CM000669.1:g.150649790T>C	GRCh37
NC_000007.12:g.150280723T>C	NCBI36
NG_008916.1:g.30225A>G , LRG_288:g.30225A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.578A>G
ENST00000684116.1:n.173A>G
ENST00000684241.1:n.2113A>G
ENST00000262186.10:c.1280A>G MANE Select	ENSP00000262186.5:p.Tyr427Cys
ENST00000330883.9:c.260A>G	ENSP00000328531.4:p.Tyr87Cys
ENST00000262186.9:c.1280A>G	ENSP00000262186.5:p.Tyr427Cys
ENST00000330883.8:c.260A>G	ENSP00000328531.4:p.Tyr87Cys
ENST00000430723.4:c.932A>G	ENSP00000387657.4:p.Tyr311Cys
ENST00000461280.1:n.567A>G
ENST00000473610.5:n.585A>G
ENST00000532957.5:n.1503A>G
NM_000238.3:c.1280A>G , LRG_288t1:c.1280A>G	NP_000229.1:p.Tyr427Cys
NM_001204798.1:c.260A>G	NP_001191727.1:p.Tyr87Cys
NM_172056.2:c.1280A>G , LRG_288t2:c.1280A>G	NP_742053.1:p.Tyr427Cys
NM_172057.2:c.260A>G , LRG_288t3:c.260A>G	NP_742054.1:p.Tyr87Cys
XM_011516185.1:c.980A>G	XP_011514487.1:p.Tyr327Cys
XM_011516186.1:c.1280A>G	XP_011514488.1:p.Tyr427Cys
XM_011516185.2:c.980A>G	XP_011514487.1:p.Tyr327Cys
XM_011516186.3:c.1280A>G	XP_011514488.1:p.Tyr427Cys
XM_017012195.1:c.1130A>G	XP_016867684.1:p.Tyr377Cys
XM_017012196.1:c.1103A>G	XP_016867685.1:p.Tyr368Cys
NM_000238.4:c.1280A>G MANE Select	NP_000229.1:p.Tyr427Cys
NM_001204798.2:c.260A>G	NP_001191727.1:p.Tyr87Cys
NM_172057.3:c.260A>G	NP_742054.1:p.Tyr87Cys