Canonical Allele Identifier: CA16618401
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421672
ClinVar RCV Id: RCV000481746
dbSNP Id: rs1064795287

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947683_150947684delinsT , CM000669.2:g.150947683_150947684delinsT GRCh38
NC_000007.13:g.150644771_150644772delinsT , CM000669.1:g.150644771_150644772delinsT GRCh37
NC_000007.12:g.150275704_150275705delinsT NCBI36
NG_008916.1:g.35243_35244delinsA , LRG_288:g.35243_35244delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3720_3721delinsA
ENST00000262186.10:c.2887_2888delinsA MANE Select ENSP00000262186.5:p.Pro963ThrfsTer11
ENST00000330883.9:c.1867_1868delinsA ENSP00000328531.4:p.Pro623ThrfsTer11
ENST00000262186.9:c.2887_2888delinsA ENSP00000262186.5:p.Pro963ThrfsTer11
ENST00000330883.8:c.1867_1868delinsA ENSP00000328531.4:p.Pro623ThrfsTer11
NM_000238.3:c.2887_2888delinsA , LRG_288t1:c.2887_2888delinsA NP_000229.1:p.Pro963ThrfsTer11
NM_172057.2:c.1867_1868delinsA , LRG_288t3:c.1867_1868delinsA NP_742054.1:p.Pro623ThrfsTer11
XM_011516185.1:c.2587_2588delinsA XP_011514487.1:p.Pro863ThrfsTer11
XM_011516186.1:c.2700_2701delinsA XP_011514488.1:p.Pro902ArgfsTer?
XM_011516185.2:c.2587_2588delinsA XP_011514487.1:p.Pro863ThrfsTer11
XM_011516186.3:c.2700_2701delinsA XP_011514488.1:p.Pro902ArgfsTer?
XM_017012195.1:c.2737_2738delinsA XP_016867684.1:p.Pro913ThrfsTer11
XM_017012196.1:c.2710_2711delinsA XP_016867685.1:p.Pro904ThrfsTer11
NM_000238.4:c.2887_2888delinsA MANE Select NP_000229.1:p.Pro963ThrfsTer11
NM_172057.3:c.1867_1868delinsA NP_742054.1:p.Pro623ThrfsTer11