Canonical Allele Identifier: CA004277
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67166
dbSNP Id: rs199473506

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952777T>C , CM000669.2:g.150952777T>C GRCh38
NC_000007.13:g.150649865T>C , CM000669.1:g.150649865T>C GRCh37
NC_000007.12:g.150280798T>C NCBI36
NG_008916.1:g.30150A>G , LRG_288:g.30150A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.503A>G
ENST00000684116.1:n.98A>G
ENST00000684241.1:n.2038A>G
ENST00000262186.10:c.1205A>G MANE Select ENSP00000262186.5:p.His402Arg
ENST00000330883.9:c.185A>G ENSP00000328531.4:p.His62Arg
ENST00000262186.9:c.1205A>G ENSP00000262186.5:p.His402Arg
ENST00000330883.8:c.185A>G ENSP00000328531.4:p.His62Arg
ENST00000430723.4:c.857A>G ENSP00000387657.4:p.His286Arg
ENST00000461280.1:n.492A>G
ENST00000473610.5:n.510A>G
ENST00000532957.5:n.1428A>G
NM_000238.3:c.1205A>G , LRG_288t1:c.1205A>G NP_000229.1:p.His402Arg
NM_001204798.1:c.185A>G NP_001191727.1:p.His62Arg
NM_172056.2:c.1205A>G , LRG_288t2:c.1205A>G NP_742053.1:p.His402Arg
NM_172057.2:c.185A>G , LRG_288t3:c.185A>G NP_742054.1:p.His62Arg
XM_011516185.1:c.905A>G XP_011514487.1:p.His302Arg
XM_011516186.1:c.1205A>G XP_011514488.1:p.His402Arg
XM_011516185.2:c.905A>G XP_011514487.1:p.His302Arg
XM_011516186.3:c.1205A>G XP_011514488.1:p.His402Arg
XM_017012195.1:c.1055A>G XP_016867684.1:p.His352Arg
XM_017012196.1:c.1028A>G XP_016867685.1:p.His343Arg
NM_000238.4:c.1205A>G MANE Select NP_000229.1:p.His402Arg
NM_001204798.2:c.185A>G NP_001191727.1:p.His62Arg
NM_172057.3:c.185A>G NP_742054.1:p.His62Arg