Canonical Allele Identifier: CA006779

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200654
• ClinVar RCV Id: RCV000181984 ; RCV000515716
• dbSNP Id: rs794728446
• MyVariant Identifiers: chr7:g.150646080del (hg19) ; chr7:g.150948992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948993del , CM000669.2:g.150948993del	GRCh38
NC_000007.13:g.150646081del , CM000669.1:g.150646081del	GRCh37
NC_000007.12:g.150277014del	NCBI36
NG_008916.1:g.33935del , LRG_288:g.33935del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3289del
ENST00000262186.10:c.2456del MANE Select	ENSP00000262186.5:p.Asn819ThrfsTer?
ENST00000330883.9:c.1436del	ENSP00000328531.4:p.Asn479ThrfsTer?
ENST00000262186.9:c.2456del	ENSP00000262186.5:p.Asn819ThrfsTer?
ENST00000330883.8:c.1436del	ENSP00000328531.4:p.Asn479ThrfsTer?
NM_000238.3:c.2456del , LRG_288t1:c.2456del	NP_000229.1:p.Asn819ThrfsTer?
NM_172057.2:c.1436del , LRG_288t3:c.1436del	NP_742054.1:p.Asn479ThrfsTer?
XM_011516185.1:c.2156del	XP_011514487.1:p.Asn719ThrfsTer?
XM_011516186.1:c.2456del	XP_011514488.1:p.Asn819ThrfsTer?
XM_011516185.2:c.2156del	XP_011514487.1:p.Asn719ThrfsTer?
XM_011516186.3:c.2456del	XP_011514488.1:p.Asn819ThrfsTer?
XM_017012195.1:c.2306del	XP_016867684.1:p.Asn769ThrfsTer?
XM_017012196.1:c.2279del	XP_016867685.1:p.Asn760ThrfsTer?
NM_000238.4:c.2456del MANE Select	NP_000229.1:p.Asn819ThrfsTer?
NM_172057.3:c.1436del	NP_742054.1:p.Asn479ThrfsTer?