Canonical Allele Identifier: CA1139660336

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 921404
• ClinVar RCV Id: RCV001843077
• dbSNP Id: rs1800974049

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947845_150947858delinsTG , CM000669.2:g.150947845_150947858delinsTG	GRCh38
NC_000007.13:g.150644933_150644946delinsTG , CM000669.1:g.150644933_150644946delinsTG	GRCh37
NC_000007.12:g.150275866_150275879delinsTG	NCBI36
NG_008916.1:g.35069_35082delinsCA , LRG_288:g.35069_35082delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3546_3559delinsCA
ENST00000262186.10:c.2713_2726delinsCA MANE Select	ENSP00000262186.5:p.Val905_Gly909delinsGln
ENST00000330883.9:c.1693_1706delinsCA	ENSP00000328531.4:p.Val565_Gly569delinsGln
ENST00000262186.9:c.2713_2726delinsCA	ENSP00000262186.5:p.Val905_Gly909delinsGln
ENST00000330883.8:c.1693_1706delinsCA	ENSP00000328531.4:p.Val565_Gly569delinsGln
NM_000238.3:c.2713_2726delinsCA , LRG_288t1:c.2713_2726delinsCA	NP_000229.1:p.Val905_Gly909delinsGln
NM_172057.2:c.1693_1706delinsCA , LRG_288t3:c.1693_1706delinsCA	NP_742054.1:p.Val565_Gly569delinsGln
XM_011516185.1:c.2413_2426delinsCA	XP_011514487.1:p.Val805_Gly809delinsGln
XM_011516186.1:c.2693-167_2693-154delinsCA	XP_011514488.1:n.2693-167_2693-154delinsCA
XM_011516185.2:c.2413_2426delinsCA	XP_011514487.1:p.Val805_Gly809delinsGln
XM_011516186.3:c.2693-167_2693-154delinsCA	XP_011514488.1:n.2693-167_2693-154delinsCA
XM_017012195.1:c.2563_2576delinsCA	XP_016867684.1:p.Val855_Gly859delinsGln
XM_017012196.1:c.2536_2549delinsCA	XP_016867685.1:p.Val846_Gly850delinsGln
NM_000238.4:c.2713_2726delinsCA MANE Select	NP_000229.1:p.Val905_Gly909delinsGln
NM_172057.3:c.1693_1706delinsCA	NP_742054.1:p.Val565_Gly569delinsGln