Canonical Allele Identifier: CA004486

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200337
• ClinVar RCV Id: RCV000181788
• dbSNP Id: rs201268831
• MyVariant Identifiers: chr7:g.150649740C>A (hg19) ; chr7:g.150952652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952652C>A , CM000669.2:g.150952652C>A	GRCh38
NC_000007.13:g.150649740C>A , CM000669.1:g.150649740C>A	GRCh37
NC_000007.12:g.150280673C>A	NCBI36
NG_008916.1:g.30275G>T , LRG_288:g.30275G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.628G>T
ENST00000684116.1:n.223G>T
ENST00000684241.1:n.2163G>T
ENST00000262186.10:c.1330G>T MANE Select	ENSP00000262186.5:p.Glu444Ter
ENST00000330883.9:c.310G>T	ENSP00000328531.4:p.Glu104Ter
ENST00000262186.9:c.1330G>T	ENSP00000262186.5:p.Glu444Ter
ENST00000330883.8:c.310G>T	ENSP00000328531.4:p.Glu104Ter
ENST00000430723.4:c.982G>T	ENSP00000387657.4:p.Glu328Ter
ENST00000461280.1:n.617G>T
ENST00000473610.5:n.635G>T
ENST00000532957.5:n.1553G>T
NM_000238.3:c.1330G>T , LRG_288t1:c.1330G>T	NP_000229.1:p.Glu444Ter
NM_001204798.1:c.310G>T	NP_001191727.1:p.Glu104Ter
NM_172056.2:c.1330G>T , LRG_288t2:c.1330G>T	NP_742053.1:p.Glu444Ter
NM_172057.2:c.310G>T , LRG_288t3:c.310G>T	NP_742054.1:p.Glu104Ter
XM_011516185.1:c.1030G>T	XP_011514487.1:p.Glu344Ter
XM_011516186.1:c.1330G>T	XP_011514488.1:p.Glu444Ter
XM_011516185.2:c.1030G>T	XP_011514487.1:p.Glu344Ter
XM_011516186.3:c.1330G>T	XP_011514488.1:p.Glu444Ter
XM_017012195.1:c.1180G>T	XP_016867684.1:p.Glu394Ter
XM_017012196.1:c.1153G>T	XP_016867685.1:p.Glu385Ter
NM_000238.4:c.1330G>T MANE Select	NP_000229.1:p.Glu444Ter
NM_001204798.2:c.310G>T	NP_001191727.1:p.Glu104Ter
NM_172057.3:c.310G>T	NP_742054.1:p.Glu104Ter