Canonical Allele Identifier: CA005460

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14423
• ClinVar RCV Id: RCV000015504 ; RCV000057986 ; RCV001545123 ; RCV001851874
• dbSNP Id: rs28928904
• MyVariant Identifiers: chr7:g.150648703A>C (hg19) ; chr7:g.150951615A>C (hg38)
• PubMed: PMID:8635257 ; PMID:9694858 ; PMID:16432067 ; PMID:16922724 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951615A>C , CM000669.2:g.150951615A>C	GRCh38
NC_000007.13:g.150648703A>C , CM000669.1:g.150648703A>C	GRCh37
NC_000007.12:g.150279636A>C	NCBI36
NG_008916.1:g.31312T>G , LRG_288:g.31312T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1076T>G
ENST00000684241.1:n.2611T>G
ENST00000262186.10:c.1778T>G MANE Select	ENSP00000262186.5:p.Ile593Arg
ENST00000330883.9:c.758T>G	ENSP00000328531.4:p.Ile253Arg
ENST00000262186.9:c.1778T>G	ENSP00000262186.5:p.Ile593Arg
ENST00000330883.8:c.758T>G	ENSP00000328531.4:p.Ile253Arg
ENST00000430723.4:c.1430T>G	ENSP00000387657.4:p.Ile477Arg
ENST00000461280.1:n.1065T>G
ENST00000473610.5:n.1083T>G
ENST00000532957.5:n.2001T>G
NM_000238.3:c.1778T>G , LRG_288t1:c.1778T>G	NP_000229.1:p.Ile593Arg
NM_001204798.1:c.758T>G	NP_001191727.1:p.Ile253Arg
NM_172056.2:c.1778T>G , LRG_288t2:c.1778T>G	NP_742053.1:p.Ile593Arg
NM_172057.2:c.758T>G , LRG_288t3:c.758T>G	NP_742054.1:p.Ile253Arg
XM_011516185.1:c.1478T>G	XP_011514487.1:p.Ile493Arg
XM_011516186.1:c.1778T>G	XP_011514488.1:p.Ile593Arg
XM_011516185.2:c.1478T>G	XP_011514487.1:p.Ile493Arg
XM_011516186.3:c.1778T>G	XP_011514488.1:p.Ile593Arg
XM_017012195.1:c.1628T>G	XP_016867684.1:p.Ile543Arg
XM_017012196.1:c.1601T>G	XP_016867685.1:p.Ile534Arg
NM_000238.4:c.1778T>G MANE Select	NP_000229.1:p.Ile593Arg
NM_001204798.2:c.758T>G	NP_001191727.1:p.Ile253Arg
NM_172057.3:c.758T>G	NP_742054.1:p.Ile253Arg