Canonical Allele Identifier: CA1752419956

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1986484
• ClinVar RCV Id: RCV002786228
• dbSNP Id: rs1801498635
• gnomAD v4: 7-150959638-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959641_150959643del , CM000669.2:g.150959641_150959643del	GRCh38
NC_000007.13:g.150656729_150656731del , CM000669.1:g.150656729_150656731del	GRCh37
NC_000007.12:g.150287662_150287664del	NCBI36
NG_008916.1:g.23286_23288del , LRG_288:g.23286_23288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1236_1238del
ENST00000262186.10:c.403_405del MANE Select	ENSP00000262186.5:p.Lys135del
ENST00000262186.9:c.403_405del	ENSP00000262186.5:p.Lys135del
ENST00000430723.4:c.226_228del	ENSP00000387657.4:p.Lys76del
ENST00000532957.5:n.626_628del
NM_000238.3:c.403_405del , LRG_288t1:c.403_405del	NP_000229.1:p.Lys135del
NM_172056.2:c.403_405del , LRG_288t2:c.403_405del	NP_742053.1:p.Lys135del
XM_011516185.1:c.103_105del	XP_011514487.1:p.Lys35del
XM_011516186.1:c.403_405del	XP_011514488.1:p.Lys135del
XM_011516185.2:c.103_105del	XP_011514487.1:p.Lys35del
XM_011516186.3:c.403_405del	XP_011514488.1:p.Lys135del
XM_017012195.1:c.253_255del	XP_016867684.1:p.Lys85del
XM_017012196.1:c.226_228del	XP_016867685.1:p.Lys76del
NM_000238.4:c.403_405del MANE Select	NP_000229.1:p.Lys135del