Canonical Allele Identifier: CA008354

Gene: KCNH2

Linked Data

• dbSNP Id: rs794728495
• MyVariant Identifiers: chr7:g.150656771del (hg19) ; chr7:g.150959683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959686del , CM000669.2:g.150959686del	GRCh38
NC_000007.13:g.150656774del , CM000669.1:g.150656774del	GRCh37
NC_000007.12:g.150287707del	NCBI36
NG_008916.1:g.23244del , LRG_288:g.23244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1194del
ENST00000262186.10:c.361del MANE Select	ENSP00000262186.5:p.Ala121LeufsTer12
ENST00000262186.9:c.361del	ENSP00000262186.5:p.Ala121LeufsTer12
ENST00000430723.4:c.184del	ENSP00000387657.4:p.Ala62LeufsTer12
ENST00000532957.5:n.584del
NM_000238.3:c.361del , LRG_288t1:c.361del	NP_000229.1:p.Ala121LeufsTer12
NM_172056.2:c.361del , LRG_288t2:c.361del	NP_742053.1:p.Ala121LeufsTer12
XM_011516185.1:c.61del	XP_011514487.1:p.Ala21LeufsTer12
XM_011516186.1:c.361del	XP_011514488.1:p.Ala121LeufsTer12
XM_011516185.2:c.61del	XP_011514487.1:p.Ala21LeufsTer12
XM_011516186.3:c.361del	XP_011514488.1:p.Ala121LeufsTer12
XM_017012195.1:c.211del	XP_016867684.1:p.Ala71LeufsTer12
XM_017012196.1:c.184del	XP_016867685.1:p.Ala62LeufsTer12
NM_000238.4:c.361del MANE Select	NP_000229.1:p.Ala121LeufsTer12