Canonical Allele Identifier: CA16618406
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 420923
ClinVar RCV Id: RCV000481174 RCV000631681 RCV003168953
dbSNP Id: rs1064794793
MyVariant Identifiers: chr7:g.150648071G>A (hg19) chr7:g.150950983G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950983G>A , CM000669.2:g.150950983G>A GRCh38
NC_000007.13:g.150648071G>A , CM000669.1:g.150648071G>A GRCh37
NC_000007.12:g.150279004G>A NCBI36
NG_008916.1:g.31944C>T , LRG_288:g.31944C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1381C>T
ENST00000683359.1:n.207C>T
ENST00000684241.1:n.2916C>T
ENST00000262186.10:c.2083C>T MANE Select ENSP00000262186.5:p.Gln695Ter
ENST00000330883.9:c.1063C>T ENSP00000328531.4:p.Gln355Ter
ENST00000262186.9:c.2083C>T ENSP00000262186.5:p.Gln695Ter
ENST00000330883.8:c.1063C>T ENSP00000328531.4:p.Gln355Ter
ENST00000430723.4:c.1735C>T ENSP00000387657.4:p.Gln579Ter
ENST00000461280.1:n.1370C>T
ENST00000473610.5:n.1715C>T
ENST00000532957.5:n.2306C>T
NM_000238.3:c.2083C>T , LRG_288t1:c.2083C>T NP_000229.1:p.Gln695Ter
NM_001204798.1:c.1063C>T NP_001191727.1:p.Gln355Ter
NM_172056.2:c.2083C>T , LRG_288t2:c.2083C>T NP_742053.1:p.Gln695Ter
NM_172057.2:c.1063C>T , LRG_288t3:c.1063C>T NP_742054.1:p.Gln355Ter
XM_011516185.1:c.1783C>T XP_011514487.1:p.Gln595Ter
XM_011516186.1:c.2083C>T XP_011514488.1:p.Gln695Ter
XM_011516185.2:c.1783C>T XP_011514487.1:p.Gln595Ter
XM_011516186.3:c.2083C>T XP_011514488.1:p.Gln695Ter
XM_017012195.1:c.1933C>T XP_016867684.1:p.Gln645Ter
XM_017012196.1:c.1906C>T XP_016867685.1:p.Gln636Ter
NM_000238.4:c.2083C>T MANE Select NP_000229.1:p.Gln695Ter
NM_001204798.2:c.1063C>T NP_001191727.1:p.Gln355Ter
NM_172057.3:c.1063C>T NP_742054.1:p.Gln355Ter
Search 100 bp 5'
Search 100 bp 3'