Canonical Allele Identifier: CA579075526

Gene: KCNH2

Linked Data

• dbSNP Id: rs1179794402
• gnomAD v2: 7-150656735-TCAC-T
• gnomAD v4: 7-150959647-TCAC-T
• MyVariant Identifiers: chr7:g.150656736_150656738del (hg19) ; chr7:g.150959648_150959650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959652_150959654del , CM000669.2:g.150959652_150959654del	GRCh38
NC_000007.13:g.150656740_150656742del , CM000669.1:g.150656740_150656742del	GRCh37
NC_000007.12:g.150287673_150287675del	NCBI36
NG_008916.1:g.23277_23279del , LRG_288:g.23277_23279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1227_1229del
ENST00000262186.10:c.394_396del MANE Select	ENSP00000262186.5:p.Val132del
ENST00000262186.9:c.394_396del	ENSP00000262186.5:p.Val132del
ENST00000430723.4:c.217_219del	ENSP00000387657.4:p.Val73del
ENST00000532957.5:n.617_619del
NM_000238.3:c.394_396del , LRG_288t1:c.394_396del	NP_000229.1:p.Val132del
NM_172056.2:c.394_396del , LRG_288t2:c.394_396del	NP_742053.1:p.Val132del
XM_011516185.1:c.94_96del	XP_011514487.1:p.Val32del
XM_011516186.1:c.394_396del	XP_011514488.1:p.Val132del
XM_011516185.2:c.94_96del	XP_011514487.1:p.Val32del
XM_011516186.3:c.394_396del	XP_011514488.1:p.Val132del
XM_017012195.1:c.244_246del	XP_016867684.1:p.Val82del
XM_017012196.1:c.217_219del	XP_016867685.1:p.Val73del
NM_000238.4:c.394_396del MANE Select	NP_000229.1:p.Val132del