Canonical Allele Identifier: CA005345

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14428
• ClinVar RCV Id: RCV000057970 ; RCV000181815 ; RCV000537059 ; RCV002399326 ; RCV000015509
• dbSNP Id: rs121912508
• gnomAD v4: 7-150951649-G-A
• COSMIC: COSM5037422 ; COSM5037423 ; COSM5037424
• MyVariant Identifiers: chr7:g.150648737G>A (hg19) ; chr7:g.150951649G>A (hg38)
• PubMed: PMID:10220144 ; PMID:11222472 ; PMID:12566525 ; PMID:12877697 ; PMID:15840476 ; PMID:19716085 ; PMID:19841300 ; PMID:21376840 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951649G>A , CM000669.2:g.150951649G>A	GRCh38
NC_000007.13:g.150648737G>A , CM000669.1:g.150648737G>A	GRCh37
NC_000007.12:g.150279670G>A	NCBI36
NG_008916.1:g.31278C>T , LRG_288:g.31278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1042C>T
ENST00000684241.1:n.2577C>T
ENST00000262186.10:c.1744C>T MANE Select	ENSP00000262186.5:p.Arg582Cys
ENST00000330883.9:c.724C>T	ENSP00000328531.4:p.Arg242Cys
ENST00000262186.9:c.1744C>T	ENSP00000262186.5:p.Arg582Cys
ENST00000330883.8:c.724C>T	ENSP00000328531.4:p.Arg242Cys
ENST00000430723.4:c.1396C>T	ENSP00000387657.4:p.Arg466Cys
ENST00000461280.1:n.1031C>T
ENST00000473610.5:n.1049C>T
ENST00000532957.5:n.1967C>T
NM_000238.3:c.1744C>T , LRG_288t1:c.1744C>T	NP_000229.1:p.Arg582Cys
NM_001204798.1:c.724C>T	NP_001191727.1:p.Arg242Cys
NM_172056.2:c.1744C>T , LRG_288t2:c.1744C>T	NP_742053.1:p.Arg582Cys
NM_172057.2:c.724C>T , LRG_288t3:c.724C>T	NP_742054.1:p.Arg242Cys
XM_011516185.1:c.1444C>T	XP_011514487.1:p.Arg482Cys
XM_011516186.1:c.1744C>T	XP_011514488.1:p.Arg582Cys
XM_011516185.2:c.1444C>T	XP_011514487.1:p.Arg482Cys
XM_011516186.3:c.1744C>T	XP_011514488.1:p.Arg582Cys
XM_017012195.1:c.1594C>T	XP_016867684.1:p.Arg532Cys
XM_017012196.1:c.1567C>T	XP_016867685.1:p.Arg523Cys
NM_000238.4:c.1744C>T MANE Select	NP_000229.1:p.Arg582Cys
NM_001204798.2:c.724C>T	NP_001191727.1:p.Arg242Cys
NM_172057.3:c.724C>T	NP_742054.1:p.Arg242Cys