Canonical Allele Identifier: CA2685608743

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958406-GCGCCCGCGCCGCCCGCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958413_150958430del , CM000669.2:g.150958413_150958430del	GRCh38
NC_000007.13:g.150655501_150655518del , CM000669.1:g.150655501_150655518del	GRCh37
NC_000007.12:g.150286434_150286451del	NCBI36
NG_008916.1:g.24503_24520del , LRG_288:g.24503_24520del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1384_1401del
ENST00000262186.10:c.551_568del MANE Select	ENSP00000262186.5:p.Gly184_Gly189del
ENST00000262186.9:c.551_568del	ENSP00000262186.5:p.Gly184_Gly189del
ENST00000430723.4:c.235-32_235-15del	ENSP00000387657.4:n.235-32_235-15del
ENST00000532957.5:n.774_791del
NM_000238.3:c.551_568del , LRG_288t1:c.551_568del	NP_000229.1:p.Gly184_Gly189del
NM_172056.2:c.551_568del , LRG_288t2:c.551_568del	NP_742053.1:p.Gly184_Gly189del
XM_011516185.1:c.251_268del	XP_011514487.1:p.Gly84_Gly89del
XM_011516186.1:c.551_568del	XP_011514488.1:p.Gly184_Gly189del
XM_011516185.2:c.251_268del	XP_011514487.1:p.Gly84_Gly89del
XM_011516186.3:c.551_568del	XP_011514488.1:p.Gly184_Gly189del
XM_017012195.1:c.401_418del	XP_016867684.1:p.Gly134_Gly139del
XM_017012196.1:c.374_391del	XP_016867685.1:p.Gly125_Gly130del
NM_000238.4:c.551_568del MANE Select	NP_000229.1:p.Gly184_Gly189del