Canonical Allele Identifier: CA006370

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 180383
• ClinVar RCV Id: RCV000157266 ; RCV000181843 ; RCV000473013 ; RCV000617781 ; RCV004017439
• dbSNP Id: rs189014161
• gnomAD v4: 7-150950336-G-A
• MyVariant Identifiers: chr7:g.150647424G>A (hg19) ; chr7:g.150950336G>A (hg38)
• PubMed: PMID:11802537 ; PMID:11854117 ; PMID:19716085 ; PMID:19841298 ; PMID:22338672 ; PMID:26704558 ; PMID:27332903

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950336G>A , CM000669.2:g.150950336G>A	GRCh38
NC_000007.13:g.150647424G>A , CM000669.1:g.150647424G>A	GRCh37
NC_000007.12:g.150278357G>A	NCBI36
NG_008916.1:g.32591C>T , LRG_288:g.32591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1528C>T
ENST00000684241.1:n.3063C>T
ENST00000262186.10:c.2230C>T MANE Select	ENSP00000262186.5:p.Arg744Ter
ENST00000330883.9:c.1210C>T	ENSP00000328531.4:p.Arg404Ter
ENST00000262186.9:c.2230C>T	ENSP00000262186.5:p.Arg744Ter
ENST00000330883.8:c.1210C>T	ENSP00000328531.4:p.Arg404Ter
ENST00000430723.4:c.1882C>T	ENSP00000387657.4:p.Arg628Ter
ENST00000461280.1:n.1517C>T
ENST00000473610.5:n.1862C>T
ENST00000532957.5:n.2453C>T
NM_000238.3:c.2230C>T , LRG_288t1:c.2230C>T	NP_000229.1:p.Arg744Ter
NM_001204798.1:c.1210C>T	NP_001191727.1:p.Arg404Ter
NM_172056.2:c.2230C>T , LRG_288t2:c.2230C>T	NP_742053.1:p.Arg744Ter
NM_172057.2:c.1210C>T , LRG_288t3:c.1210C>T	NP_742054.1:p.Arg404Ter
XM_011516185.1:c.1930C>T	XP_011514487.1:p.Arg644Ter
XM_011516186.1:c.2230C>T	XP_011514488.1:p.Arg744Ter
XM_011516185.2:c.1930C>T	XP_011514487.1:p.Arg644Ter
XM_011516186.3:c.2230C>T	XP_011514488.1:p.Arg744Ter
XM_017012195.1:c.2080C>T	XP_016867684.1:p.Arg694Ter
XM_017012196.1:c.2053C>T	XP_016867685.1:p.Arg685Ter
NM_000238.4:c.2230C>T MANE Select	NP_000229.1:p.Arg744Ter
NM_001204798.2:c.1210C>T	NP_001191727.1:p.Arg404Ter
NM_172057.3:c.1210C>T	NP_742054.1:p.Arg404Ter