Canonical Allele Identifier: CA072262
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527047
ClinVar RCV Id: RCV000631764
dbSNP Id: rs775056804

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957492G>A , CM000669.2:g.150957492G>A GRCh38
NC_000007.13:g.150654580G>A , CM000669.1:g.150654580G>A GRCh37
NC_000007.12:g.150285513G>A NCBI36
NG_008916.1:g.25435C>T , LRG_288:g.25435C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1760C>T
ENST00000262186.10:c.927C>T MANE Select ENSP00000262186.5:p.His309=
ENST00000262186.9:c.927C>T ENSP00000262186.5:p.His309=
ENST00000430723.4:c.579C>T ENSP00000387657.4:p.His193=
ENST00000532957.5:n.1150C>T
NM_000238.3:c.927C>T , LRG_288t1:c.927C>T NP_000229.1:p.His309=
NM_172056.2:c.927C>T , LRG_288t2:c.927C>T NP_742053.1:p.His309=
XM_011516185.1:c.627C>T XP_011514487.1:p.His209=
XM_011516186.1:c.927C>T XP_011514488.1:p.His309=
XM_011516185.2:c.627C>T XP_011514487.1:p.His209=
XM_011516186.3:c.927C>T XP_011514488.1:p.His309=
XM_017012195.1:c.777C>T XP_016867684.1:p.His259=
XM_017012196.1:c.750C>T XP_016867685.1:p.His250=
NM_000238.4:c.927C>T MANE Select NP_000229.1:p.His309=