Canonical Allele Identifier: CA005579

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200789
• ClinVar RCV Id: RCV001842861
• dbSNP Id: rs794728499
• MyVariant Identifiers: chr7:g.150648666del (hg19) ; chr7:g.150951578del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951581del , CM000669.2:g.150951581del	GRCh38
NC_000007.13:g.150648669del , CM000669.1:g.150648669del	GRCh37
NC_000007.12:g.150279602del	NCBI36
NG_008916.1:g.31349del , LRG_288:g.31349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1113del
ENST00000684241.1:n.2648del
ENST00000262186.10:c.1815del MANE Select	ENSP00000262186.5:p.Ser606ProfsTer7
ENST00000330883.9:c.795del	ENSP00000328531.4:p.Ser266ProfsTer7
ENST00000262186.9:c.1815del	ENSP00000262186.5:p.Ser606ProfsTer7
ENST00000330883.8:c.795del	ENSP00000328531.4:p.Ser266ProfsTer7
ENST00000430723.4:c.1467del	ENSP00000387657.4:p.Ser490ProfsTer7
ENST00000461280.1:n.1102del
ENST00000473610.5:n.1120del
ENST00000532957.5:n.2038del
NM_000238.3:c.1815del , LRG_288t1:c.1815del	NP_000229.1:p.Ser606ProfsTer7
NM_001204798.1:c.795del	NP_001191727.1:p.Ser266ProfsTer7
NM_172056.2:c.1815del , LRG_288t2:c.1815del	NP_742053.1:p.Ser606ProfsTer7
NM_172057.2:c.795del , LRG_288t3:c.795del	NP_742054.1:p.Ser266ProfsTer7
XM_011516185.1:c.1515del	XP_011514487.1:p.Ser506ProfsTer7
XM_011516186.1:c.1815del	XP_011514488.1:p.Ser606ProfsTer7
XM_011516185.2:c.1515del	XP_011514487.1:p.Ser506ProfsTer7
XM_011516186.3:c.1815del	XP_011514488.1:p.Ser606ProfsTer7
XM_017012195.1:c.1665del	XP_016867684.1:p.Ser556ProfsTer7
XM_017012196.1:c.1638del	XP_016867685.1:p.Ser547ProfsTer7
NM_000238.4:c.1815del MANE Select	NP_000229.1:p.Ser606ProfsTer7
NM_001204798.2:c.795del	NP_001191727.1:p.Ser266ProfsTer7
NM_172057.3:c.795del	NP_742054.1:p.Ser266ProfsTer7