Canonical Allele Identifier: CA008597

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200602
• ClinVar RCV Id: RCV002345630
• dbSNP Id: rs794728420
• MyVariant Identifiers: chr7:g.150655495_150655498del (hg19) ; chr7:g.150958407_150958410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958410_150958413del , CM000669.2:g.150958410_150958413del	GRCh38
NC_000007.13:g.150655498_150655501del , CM000669.1:g.150655498_150655501del	GRCh37
NC_000007.12:g.150286431_150286434del	NCBI36
NG_008916.1:g.24517_24520del , LRG_288:g.24517_24520del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1398_1401del
ENST00000262186.10:c.565_568del MANE Select	ENSP00000262186.5:p.Gly189ProfsTer11
ENST00000262186.9:c.565_568del	ENSP00000262186.5:p.Gly189ProfsTer11
ENST00000430723.4:c.235-18_235-15del	ENSP00000387657.4:n.235-18_235-15del
ENST00000532957.5:n.788_791del
NM_000238.3:c.565_568del , LRG_288t1:c.565_568del	NP_000229.1:p.Gly189ProfsTer11
NM_172056.2:c.565_568del , LRG_288t2:c.565_568del	NP_742053.1:p.Gly189ProfsTer11
XM_011516185.1:c.265_268del	XP_011514487.1:p.Gly89ProfsTer11
XM_011516186.1:c.565_568del	XP_011514488.1:p.Gly189ProfsTer11
XM_011516185.2:c.265_268del	XP_011514487.1:p.Gly89ProfsTer11
XM_011516186.3:c.565_568del	XP_011514488.1:p.Gly189ProfsTer11
XM_017012195.1:c.415_418del	XP_016867684.1:p.Gly139ProfsTer11
XM_017012196.1:c.388_391del	XP_016867685.1:p.Gly130ProfsTer11
NM_000238.4:c.565_568del MANE Select	NP_000229.1:p.Gly189ProfsTer11