Canonical Allele Identifier: CA915945574

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 640022
• ClinVar RCV Id: RCV000792958
• dbSNP Id: rs1584850710

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950311del , CM000669.2:g.150950311del	GRCh38
NC_000007.13:g.150647399del , CM000669.1:g.150647399del	GRCh37
NC_000007.12:g.150278332del	NCBI36
NG_008916.1:g.32618del , LRG_288:g.32618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1555del
ENST00000684241.1:n.3090del
ENST00000262186.10:c.2257del MANE Select	ENSP00000262186.5:p.Ala753ProfsTer4
ENST00000330883.9:c.1237del	ENSP00000328531.4:p.Ala413ProfsTer4
ENST00000262186.9:c.2257del	ENSP00000262186.5:p.Ala753ProfsTer4
ENST00000330883.8:c.1237del	ENSP00000328531.4:p.Ala413ProfsTer4
ENST00000430723.4:c.1909del	ENSP00000387657.4:p.Ala637ProfsTer4
ENST00000461280.1:n.1544del
ENST00000473610.5:n.1889del
ENST00000532957.5:n.2480del
NM_000238.3:c.2257del , LRG_288t1:c.2257del	NP_000229.1:p.Ala753ProfsTer4
NM_001204798.1:c.1237del	NP_001191727.1:p.Ala413ProfsTer4
NM_172056.2:c.2257del , LRG_288t2:c.2257del	NP_742053.1:p.Ala753ProfsTer4
NM_172057.2:c.1237del , LRG_288t3:c.1237del	NP_742054.1:p.Ala413ProfsTer4
XM_011516185.1:c.1957del	XP_011514487.1:p.Ala653ProfsTer4
XM_011516186.1:c.2257del	XP_011514488.1:p.Ala753ProfsTer4
XM_011516185.2:c.1957del	XP_011514487.1:p.Ala653ProfsTer4
XM_011516186.3:c.2257del	XP_011514488.1:p.Ala753ProfsTer4
XM_017012195.1:c.2107del	XP_016867684.1:p.Ala703ProfsTer4
XM_017012196.1:c.2080del	XP_016867685.1:p.Ala694ProfsTer4
NM_000238.4:c.2257del MANE Select	NP_000229.1:p.Ala753ProfsTer4
NM_001204798.2:c.1237del	NP_001191727.1:p.Ala413ProfsTer4
NM_172057.3:c.1237del	NP_742054.1:p.Ala413ProfsTer4