Canonical Allele Identifier: CA369860164

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2136629
• ClinVar RCV Id: RCV003037271
• MyVariant Identifiers: chr7:g.150649839C>A (hg19) ; chr7:g.150952751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952751C>A , CM000669.2:g.150952751C>A	GRCh38
NC_000007.13:g.150649839C>A , CM000669.1:g.150649839C>A	GRCh37
NC_000007.12:g.150280772C>A	NCBI36
NG_008916.1:g.30176G>T , LRG_288:g.30176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.529G>T
ENST00000684116.1:n.124G>T
ENST00000684241.1:n.2064G>T
ENST00000262186.10:c.1231G>T MANE Select	ENSP00000262186.5:p.Asp411Tyr
ENST00000330883.9:c.211G>T	ENSP00000328531.4:p.Asp71Tyr
ENST00000262186.9:c.1231G>T	ENSP00000262186.5:p.Asp411Tyr
ENST00000330883.8:c.211G>T	ENSP00000328531.4:p.Asp71Tyr
ENST00000430723.4:c.883G>T	ENSP00000387657.4:p.Asp295Tyr
ENST00000461280.1:n.518G>T
ENST00000473610.5:n.536G>T
ENST00000532957.5:n.1454G>T
NM_000238.3:c.1231G>T , LRG_288t1:c.1231G>T	NP_000229.1:p.Asp411Tyr
NM_001204798.1:c.211G>T	NP_001191727.1:p.Asp71Tyr
NM_172056.2:c.1231G>T , LRG_288t2:c.1231G>T	NP_742053.1:p.Asp411Tyr
NM_172057.2:c.211G>T , LRG_288t3:c.211G>T	NP_742054.1:p.Asp71Tyr
XM_011516185.1:c.931G>T	XP_011514487.1:p.Asp311Tyr
XM_011516186.1:c.1231G>T	XP_011514488.1:p.Asp411Tyr
XM_011516185.2:c.931G>T	XP_011514487.1:p.Asp311Tyr
XM_011516186.3:c.1231G>T	XP_011514488.1:p.Asp411Tyr
XM_017012195.1:c.1081G>T	XP_016867684.1:p.Asp361Tyr
XM_017012196.1:c.1054G>T	XP_016867685.1:p.Asp352Tyr
NM_000238.4:c.1231G>T MANE Select	NP_000229.1:p.Asp411Tyr
NM_001204798.2:c.211G>T	NP_001191727.1:p.Asp71Tyr
NM_172057.3:c.211G>T	NP_742054.1:p.Asp71Tyr