Canonical Allele Identifier: CA369863590
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1982556
ClinVar RCV Id: RCV002766804

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959574G>A , CM000669.2:g.150959574G>A GRCh38
NC_000007.13:g.150656662G>A , CM000669.1:g.150656662G>A GRCh37
NC_000007.12:g.150287595G>A NCBI36
NG_008916.1:g.23353C>T , LRG_288:g.23353C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1303C>T
ENST00000262186.10:c.470C>T MANE Select ENSP00000262186.5:p.Pro157Leu
ENST00000262186.9:c.470C>T ENSP00000262186.5:p.Pro157Leu
ENST00000430723.4:c.234+59C>T ENSP00000387657.4:n.234+59C>T
ENST00000532957.5:n.693C>T
NM_000238.3:c.470C>T , LRG_288t1:c.470C>T NP_000229.1:p.Pro157Leu
NM_172056.2:c.470C>T , LRG_288t2:c.470C>T NP_742053.1:p.Pro157Leu
XM_011516185.1:c.170C>T XP_011514487.1:p.Pro57Leu
XM_011516186.1:c.470C>T XP_011514488.1:p.Pro157Leu
XM_011516185.2:c.170C>T XP_011514487.1:p.Pro57Leu
XM_011516186.3:c.470C>T XP_011514488.1:p.Pro157Leu
XM_017012195.1:c.320C>T XP_016867684.1:p.Pro107Leu
XM_017012196.1:c.293C>T XP_016867685.1:p.Pro98Leu
NM_000238.4:c.470C>T MANE Select NP_000229.1:p.Pro157Leu