Canonical Allele Identifier: CA004976

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67226
• ClinVar RCV Id: RCV000057936 ; RCV001703966 ; RCV001854196
• dbSNP Id: rs199472919
• MyVariant Identifiers: chr7:g.150648808G>T (hg19) ; chr7:g.150951720G>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951720G>T , CM000669.2:g.150951720G>T	GRCh38
NC_000007.13:g.150648808G>T , CM000669.1:g.150648808G>T	GRCh37
NC_000007.12:g.150279741G>T	NCBI36
NG_008916.1:g.31207C>A , LRG_288:g.31207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.971C>A
ENST00000684241.1:n.2506C>A
ENST00000262186.10:c.1673C>A MANE Select	ENSP00000262186.5:p.Ala558Glu
ENST00000330883.9:c.653C>A	ENSP00000328531.4:p.Ala218Glu
ENST00000262186.9:c.1673C>A	ENSP00000262186.5:p.Ala558Glu
ENST00000330883.8:c.653C>A	ENSP00000328531.4:p.Ala218Glu
ENST00000430723.4:c.1325C>A	ENSP00000387657.4:p.Ala442Glu
ENST00000461280.1:n.960C>A
ENST00000473610.5:n.978C>A
ENST00000532957.5:n.1896C>A
NM_000238.3:c.1673C>A , LRG_288t1:c.1673C>A	NP_000229.1:p.Ala558Glu
NM_001204798.1:c.653C>A	NP_001191727.1:p.Ala218Glu
NM_172056.2:c.1673C>A , LRG_288t2:c.1673C>A	NP_742053.1:p.Ala558Glu
NM_172057.2:c.653C>A , LRG_288t3:c.653C>A	NP_742054.1:p.Ala218Glu
XM_011516185.1:c.1373C>A	XP_011514487.1:p.Ala458Glu
XM_011516186.1:c.1673C>A	XP_011514488.1:p.Ala558Glu
XM_011516185.2:c.1373C>A	XP_011514487.1:p.Ala458Glu
XM_011516186.3:c.1673C>A	XP_011514488.1:p.Ala558Glu
XM_017012195.1:c.1523C>A	XP_016867684.1:p.Ala508Glu
XM_017012196.1:c.1496C>A	XP_016867685.1:p.Ala499Glu
NM_000238.4:c.1673C>A MANE Select	NP_000229.1:p.Ala558Glu
NM_001204798.2:c.653C>A	NP_001191727.1:p.Ala218Glu
NM_172057.3:c.653C>A	NP_742054.1:p.Ala218Glu