Canonical Allele Identifier: CA369857660

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2919164
• ClinVar RCV Id: RCV003649132
• dbSNP Id: rs1801133286
• MyVariant Identifiers: chr7:g.150648145G>A (hg19) ; chr7:g.150951057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951057G>A , CM000669.2:g.150951057G>A	GRCh38
NC_000007.13:g.150648145G>A , CM000669.1:g.150648145G>A	GRCh37
NC_000007.12:g.150279078G>A	NCBI36
NG_008916.1:g.31870C>T , LRG_288:g.31870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1307C>T
ENST00000683359.1:n.133C>T
ENST00000684241.1:n.2842C>T
ENST00000262186.10:c.2009C>T MANE Select	ENSP00000262186.5:p.Thr670Ile
ENST00000330883.9:c.989C>T	ENSP00000328531.4:p.Thr330Ile
ENST00000262186.9:c.2009C>T	ENSP00000262186.5:p.Thr670Ile
ENST00000330883.8:c.989C>T	ENSP00000328531.4:p.Thr330Ile
ENST00000430723.4:c.1661C>T	ENSP00000387657.4:p.Thr554Ile
ENST00000461280.1:n.1296C>T
ENST00000473610.5:n.1641C>T
ENST00000532957.5:n.2232C>T
NM_000238.3:c.2009C>T , LRG_288t1:c.2009C>T	NP_000229.1:p.Thr670Ile
NM_001204798.1:c.989C>T	NP_001191727.1:p.Thr330Ile
NM_172056.2:c.2009C>T , LRG_288t2:c.2009C>T	NP_742053.1:p.Thr670Ile
NM_172057.2:c.989C>T , LRG_288t3:c.989C>T	NP_742054.1:p.Thr330Ile
XM_011516185.1:c.1709C>T	XP_011514487.1:p.Thr570Ile
XM_011516186.1:c.2009C>T	XP_011514488.1:p.Thr670Ile
XM_011516185.2:c.1709C>T	XP_011514487.1:p.Thr570Ile
XM_011516186.3:c.2009C>T	XP_011514488.1:p.Thr670Ile
XM_017012195.1:c.1859C>T	XP_016867684.1:p.Thr620Ile
XM_017012196.1:c.1832C>T	XP_016867685.1:p.Thr611Ile
NM_000238.4:c.2009C>T MANE Select	NP_000229.1:p.Thr670Ile
NM_001204798.2:c.989C>T	NP_001191727.1:p.Thr330Ile
NM_172057.3:c.989C>T	NP_742054.1:p.Thr330Ile