Canonical Allele Identifier: CA369860336

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 925167
• ClinVar RCV Id: RCV001840976
• dbSNP Id: rs201995634
• MyVariant Identifiers: chr7:g.150649921G>T (hg19) ; chr7:g.150952833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952833G>T , CM000669.2:g.150952833G>T	GRCh38
NC_000007.13:g.150649921G>T , CM000669.1:g.150649921G>T	GRCh37
NC_000007.12:g.150280854G>T	NCBI36
NG_008916.1:g.30094C>A , LRG_288:g.30094C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.447C>A
ENST00000684116.1:n.42C>A
ENST00000684241.1:n.1982C>A
ENST00000262186.10:c.1149C>A MANE Select	ENSP00000262186.5:p.Asp383Glu
ENST00000330883.9:c.129C>A	ENSP00000328531.4:p.Asp43Glu
ENST00000262186.9:c.1149C>A	ENSP00000262186.5:p.Asp383Glu
ENST00000330883.8:c.129C>A	ENSP00000328531.4:p.Asp43Glu
ENST00000430723.4:c.801C>A	ENSP00000387657.4:p.Asp267Glu
ENST00000461280.1:n.436C>A
ENST00000473610.5:n.454C>A
ENST00000532957.5:n.1372C>A
NM_000238.3:c.1149C>A , LRG_288t1:c.1149C>A	NP_000229.1:p.Asp383Glu
NM_001204798.1:c.129C>A	NP_001191727.1:p.Asp43Glu
NM_172056.2:c.1149C>A , LRG_288t2:c.1149C>A	NP_742053.1:p.Asp383Glu
NM_172057.2:c.129C>A , LRG_288t3:c.129C>A	NP_742054.1:p.Asp43Glu
XM_011516185.1:c.849C>A	XP_011514487.1:p.Asp283Glu
XM_011516186.1:c.1149C>A	XP_011514488.1:p.Asp383Glu
XM_011516185.2:c.849C>A	XP_011514487.1:p.Asp283Glu
XM_011516186.3:c.1149C>A	XP_011514488.1:p.Asp383Glu
XM_017012195.1:c.999C>A	XP_016867684.1:p.Asp333Glu
XM_017012196.1:c.972C>A	XP_016867685.1:p.Asp324Glu
NM_000238.4:c.1149C>A MANE Select	NP_000229.1:p.Asp383Glu
NM_001204798.2:c.129C>A	NP_001191727.1:p.Asp43Glu
NM_172057.3:c.129C>A	NP_742054.1:p.Asp43Glu