Canonical Allele Identifier: CA579075492

Gene: KCNH2

Linked Data

• gnomAD v2: 7-150655485-GC-G
• gnomAD v4: 7-150958397-GC-G
• MyVariant Identifiers: chr7:g.150655486del (hg19) ; chr7:g.150958398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958402del , CM000669.2:g.150958402del	GRCh38
NC_000007.13:g.150655490del , CM000669.1:g.150655490del	GRCh37
NC_000007.12:g.150286423del	NCBI36
NG_008916.1:g.24529del , LRG_288:g.24529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1410del
ENST00000262186.10:c.577del MANE Select	ENSP00000262186.5:p.Ala193ProfsTer8
ENST00000262186.9:c.577del	ENSP00000262186.5:p.Ala193ProfsTer8
ENST00000430723.4:c.235-6del	ENSP00000387657.4:n.235-6del
ENST00000532957.5:n.800del
NM_000238.3:c.577del , LRG_288t1:c.577del	NP_000229.1:p.Ala193ProfsTer8
NM_172056.2:c.577del , LRG_288t2:c.577del	NP_742053.1:p.Ala193ProfsTer8
XM_011516185.1:c.277del	XP_011514487.1:p.Ala93ProfsTer8
XM_011516186.1:c.577del	XP_011514488.1:p.Ala193ProfsTer8
XM_011516185.2:c.277del	XP_011514487.1:p.Ala93ProfsTer8
XM_011516186.3:c.577del	XP_011514488.1:p.Ala193ProfsTer8
XM_017012195.1:c.427del	XP_016867684.1:p.Ala143ProfsTer8
XM_017012196.1:c.400del	XP_016867685.1:p.Ala134ProfsTer8
NM_000238.4:c.577del MANE Select	NP_000229.1:p.Ala193ProfsTer8