Canonical Allele Identifier: CA579075493

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2197341
• ClinVar RCV Id: RCV002637622
• dbSNP Id: rs1309145286
• gnomAD v2: 7-150655492-GGGCGCCCGC-G
• gnomAD v4: 7-150958404-GGGCGCCCGC-G
• MyVariant Identifiers: chr7:g.150655493_150655501del (hg19) ; chr7:g.150958405_150958413del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958406_150958414del , CM000669.2:g.150958406_150958414del	GRCh38
NC_000007.13:g.150655494_150655502del , CM000669.1:g.150655494_150655502del	GRCh37
NC_000007.12:g.150286427_150286435del	NCBI36
NG_008916.1:g.24514_24522del , LRG_288:g.24514_24522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1395_1403del
ENST00000262186.10:c.562_570del MANE Select	ENSP00000262186.5:p.Ala188_Ala190del
ENST00000262186.9:c.562_570del	ENSP00000262186.5:p.Ala188_Ala190del
ENST00000430723.4:c.235-21_235-13del	ENSP00000387657.4:n.235-21_235-13del
ENST00000532957.5:n.785_793del
NM_000238.3:c.562_570del , LRG_288t1:c.562_570del	NP_000229.1:p.Ala188_Ala190del
NM_172056.2:c.562_570del , LRG_288t2:c.562_570del	NP_742053.1:p.Ala188_Ala190del
XM_011516185.1:c.262_270del	XP_011514487.1:p.Ala88_Ala90del
XM_011516186.1:c.562_570del	XP_011514488.1:p.Ala188_Ala190del
XM_011516185.2:c.262_270del	XP_011514487.1:p.Ala88_Ala90del
XM_011516186.3:c.562_570del	XP_011514488.1:p.Ala188_Ala190del
XM_017012195.1:c.412_420del	XP_016867684.1:p.Ala138_Ala140del
XM_017012196.1:c.385_393del	XP_016867685.1:p.Ala129_Ala131del
NM_000238.4:c.562_570del MANE Select	NP_000229.1:p.Ala188_Ala190del