Canonical Allele Identifier: CA008861

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200606
• ClinVar RCV Id: RCV000181960 ; RCV002517775
• dbSNP Id: rs794728422
• MyVariant Identifiers: chr7:g.150655237del (hg19) ; chr7:g.150958149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958149del , CM000669.2:g.150958149del	GRCh38
NC_000007.13:g.150655237del , CM000669.1:g.150655237del	GRCh37
NC_000007.12:g.150286170del	NCBI36
NG_008916.1:g.24778del , LRG_288:g.24778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1659del
ENST00000262186.10:c.826del MANE Select	ENSP00000262186.5:p.Cys276AlafsTer?
ENST00000262186.9:c.826del	ENSP00000262186.5:p.Cys276AlafsTer?
ENST00000430723.4:c.478del	ENSP00000387657.4:p.Cys160AlafsTer?
ENST00000532957.5:n.1049del
NM_000238.3:c.826del , LRG_288t1:c.826del	NP_000229.1:p.Cys276AlafsTer?
NM_172056.2:c.826del , LRG_288t2:c.826del	NP_742053.1:p.Cys276AlafsTer?
XM_011516185.1:c.526del	XP_011514487.1:p.Cys176AlafsTer?
XM_011516186.1:c.826del	XP_011514488.1:p.Cys276AlafsTer?
XM_011516185.2:c.526del	XP_011514487.1:p.Cys176AlafsTer?
XM_011516186.3:c.826del	XP_011514488.1:p.Cys276AlafsTer?
XM_017012195.1:c.676del	XP_016867684.1:p.Cys226AlafsTer?
XM_017012196.1:c.649del	XP_016867685.1:p.Cys217AlafsTer?
NM_000238.4:c.826del MANE Select	NP_000229.1:p.Cys276AlafsTer?