Canonical Allele Identifier: CA16042572
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372574
ClinVar RCV Id: RCV000412811 RCV002523917
dbSNP Id: rs1057517866
MyVariant Identifiers: chr7:g.150648817C>T (hg19) chr7:g.150951729C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951729C>T , CM000669.2:g.150951729C>T GRCh38
NC_000007.13:g.150648817C>T , CM000669.1:g.150648817C>T GRCh37
NC_000007.12:g.150279750C>T NCBI36
NG_008916.1:g.31198G>A , LRG_288:g.31198G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.962G>A
ENST00000684116.1:n.557G>A
ENST00000684241.1:n.2497G>A
ENST00000262186.10:c.1664G>A MANE Select ENSP00000262186.5:p.Cys555Tyr
ENST00000330883.9:c.644G>A ENSP00000328531.4:p.Cys215Tyr
ENST00000262186.9:c.1664G>A ENSP00000262186.5:p.Cys555Tyr
ENST00000330883.8:c.644G>A ENSP00000328531.4:p.Cys215Tyr
ENST00000430723.4:c.1316G>A ENSP00000387657.4:p.Cys439Tyr
ENST00000461280.1:n.951G>A
ENST00000473610.5:n.969G>A
ENST00000532957.5:n.1887G>A
NM_000238.3:c.1664G>A , LRG_288t1:c.1664G>A NP_000229.1:p.Cys555Tyr
NM_001204798.1:c.644G>A NP_001191727.1:p.Cys215Tyr
NM_172056.2:c.1664G>A , LRG_288t2:c.1664G>A NP_742053.1:p.Cys555Tyr
NM_172057.2:c.644G>A , LRG_288t3:c.644G>A NP_742054.1:p.Cys215Tyr
XM_011516185.1:c.1364G>A XP_011514487.1:p.Cys455Tyr
XM_011516186.1:c.1664G>A XP_011514488.1:p.Cys555Tyr
XM_011516185.2:c.1364G>A XP_011514487.1:p.Cys455Tyr
XM_011516186.3:c.1664G>A XP_011514488.1:p.Cys555Tyr
XM_017012195.1:c.1514G>A XP_016867684.1:p.Cys505Tyr
XM_017012196.1:c.1487G>A XP_016867685.1:p.Cys496Tyr
NM_000238.4:c.1664G>A MANE Select NP_000229.1:p.Cys555Tyr
NM_001204798.2:c.644G>A NP_001191727.1:p.Cys215Tyr
NM_172057.3:c.644G>A NP_742054.1:p.Cys215Tyr
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