Canonical Allele Identifier: CA004798
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67212
ClinVar RCV Id: RCV001841701 RCV001854194
dbSNP Id: rs199473514
gnomAD v4: 7-150951829-C-T
COSMIC: COSM4856569 COSM4856570 COSM4856571
MyVariant Identifiers: chr7:g.150648917C>T (hg19) chr7:g.150951829C>T (hg38)
PubMed: PMID:19862833 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951829C>T , CM000669.2:g.150951829C>T GRCh38
NC_000007.13:g.150648917C>T , CM000669.1:g.150648917C>T GRCh37
NC_000007.12:g.150279850C>T NCBI36
NG_008916.1:g.31098G>A , LRG_288:g.31098G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.862G>A
ENST00000684116.1:n.457G>A
ENST00000684241.1:n.2397G>A
ENST00000262186.10:c.1564G>A MANE Select ENSP00000262186.5:p.Gly522Arg
ENST00000330883.9:c.544G>A ENSP00000328531.4:p.Gly182Arg
ENST00000262186.9:c.1564G>A ENSP00000262186.5:p.Gly522Arg
ENST00000330883.8:c.544G>A ENSP00000328531.4:p.Gly182Arg
ENST00000430723.4:c.1216G>A ENSP00000387657.4:p.Gly406Arg
ENST00000461280.1:n.851G>A
ENST00000473610.5:n.869G>A
ENST00000532957.5:n.1787G>A
NM_000238.3:c.1564G>A , LRG_288t1:c.1564G>A NP_000229.1:p.Gly522Arg
NM_001204798.1:c.544G>A NP_001191727.1:p.Gly182Arg
NM_172056.2:c.1564G>A , LRG_288t2:c.1564G>A NP_742053.1:p.Gly522Arg
NM_172057.2:c.544G>A , LRG_288t3:c.544G>A NP_742054.1:p.Gly182Arg
XM_011516185.1:c.1264G>A XP_011514487.1:p.Gly422Arg
XM_011516186.1:c.1564G>A XP_011514488.1:p.Gly522Arg
XM_011516185.2:c.1264G>A XP_011514487.1:p.Gly422Arg
XM_011516186.3:c.1564G>A XP_011514488.1:p.Gly522Arg
XM_017012195.1:c.1414G>A XP_016867684.1:p.Gly472Arg
XM_017012196.1:c.1387G>A XP_016867685.1:p.Gly463Arg
NM_000238.4:c.1564G>A MANE Select NP_000229.1:p.Gly522Arg
NM_001204798.2:c.544G>A NP_001191727.1:p.Gly182Arg
NM_172057.3:c.544G>A NP_742054.1:p.Gly182Arg
Search 100 bp 5'
Search 100 bp 3'