Canonical Allele Identifier: CA070943
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1221152
ClinVar RCV Id: RCV001597341
dbSNP Id: rs2116955996
MyVariant Identifiers: chr7:g.150648168G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951080G>A , CM000669.2:g.150951080G>A GRCh38
NC_000007.13:g.150648168G>A , CM000669.1:g.150648168G>A GRCh37
NC_000007.12:g.150279101G>A NCBI36
NG_008916.1:g.31847C>T , LRG_288:g.31847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1284C>T
ENST00000683359.1:n.110C>T
ENST00000684241.1:n.2819C>T
ENST00000262186.10:c.1986C>T MANE Select ENSP00000262186.5:p.Ile662=
ENST00000330883.9:c.966C>T ENSP00000328531.4:p.Ile322=
ENST00000262186.9:c.1986C>T ENSP00000262186.5:p.Ile662=
ENST00000330883.8:c.966C>T ENSP00000328531.4:p.Ile322=
ENST00000430723.4:c.1638C>T ENSP00000387657.4:p.Ile546=
ENST00000461280.1:n.1273C>T
ENST00000473610.5:n.1618C>T
ENST00000532957.5:n.2209C>T
NM_000238.3:c.1986C>T , LRG_288t1:c.1986C>T NP_000229.1:p.Ile662=
NM_001204798.1:c.966C>T NP_001191727.1:p.Ile322=
NM_172056.2:c.1986C>T , LRG_288t2:c.1986C>T NP_742053.1:p.Ile662=
NM_172057.2:c.966C>T , LRG_288t3:c.966C>T NP_742054.1:p.Ile322=
XM_011516185.1:c.1686C>T XP_011514487.1:p.Ile562=
XM_011516186.1:c.1986C>T XP_011514488.1:p.Ile662=
XM_011516185.2:c.1686C>T XP_011514487.1:p.Ile562=
XM_011516186.3:c.1986C>T XP_011514488.1:p.Ile662=
XM_017012195.1:c.1836C>T XP_016867684.1:p.Ile612=
XM_017012196.1:c.1809C>T XP_016867685.1:p.Ile603=
NM_000238.4:c.1986C>T MANE Select NP_000229.1:p.Ile662=
NM_001204798.2:c.966C>T NP_001191727.1:p.Ile322=
NM_172057.3:c.966C>T NP_742054.1:p.Ile322=