Canonical Allele Identifier: CA030505

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 979129
• ClinVar RCV Id: RCV001258196 ; RCV001879987 ; RCV002418862
• dbSNP Id: rs758751607
• ExAC: 7:150648100 C / T
• gnomAD v2: 7-150648100-C-T
• gnomAD v3: 7-150951012-C-T
• gnomAD v4: 7-150951012-C-T
• MyVariant Identifiers: chr7:g.150648100C>T (hg19) ; chr7:g.150951012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951012C>T , CM000669.2:g.150951012C>T	GRCh38
NC_000007.13:g.150648100C>T , CM000669.1:g.150648100C>T	GRCh37
NC_000007.12:g.150279033C>T	NCBI36
NG_008916.1:g.31915G>A , LRG_288:g.31915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1352G>A
ENST00000683359.1:n.178G>A
ENST00000684241.1:n.2887G>A
ENST00000262186.10:c.2054G>A MANE Select	ENSP00000262186.5:p.Arg685His
ENST00000330883.9:c.1034G>A	ENSP00000328531.4:p.Arg345His
ENST00000262186.9:c.2054G>A	ENSP00000262186.5:p.Arg685His
ENST00000330883.8:c.1034G>A	ENSP00000328531.4:p.Arg345His
ENST00000430723.4:c.1706G>A	ENSP00000387657.4:p.Arg569His
ENST00000461280.1:n.1341G>A
ENST00000473610.5:n.1686G>A
ENST00000532957.5:n.2277G>A
NM_000238.3:c.2054G>A , LRG_288t1:c.2054G>A	NP_000229.1:p.Arg685His
NM_001204798.1:c.1034G>A	NP_001191727.1:p.Arg345His
NM_172056.2:c.2054G>A , LRG_288t2:c.2054G>A	NP_742053.1:p.Arg685His
NM_172057.2:c.1034G>A , LRG_288t3:c.1034G>A	NP_742054.1:p.Arg345His
XM_011516185.1:c.1754G>A	XP_011514487.1:p.Arg585His
XM_011516186.1:c.2054G>A	XP_011514488.1:p.Arg685His
XM_011516185.2:c.1754G>A	XP_011514487.1:p.Arg585His
XM_011516186.3:c.2054G>A	XP_011514488.1:p.Arg685His
XM_017012195.1:c.1904G>A	XP_016867684.1:p.Arg635His
XM_017012196.1:c.1877G>A	XP_016867685.1:p.Arg626His
NM_000238.4:c.2054G>A MANE Select	NP_000229.1:p.Arg685His
NM_001204798.2:c.1034G>A	NP_001191727.1:p.Arg345His
NM_172057.3:c.1034G>A	NP_742054.1:p.Arg345His