Canonical Allele Identifier: CA658797036

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519378
• ClinVar RCV Id: RCV000620946
• dbSNP Id: rs1554424620
• MyVariant Identifiers: chr7:g.150645538_150645544del (hg19) ; chr7:g.150948450_150948456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948452_150948458del , CM000669.2:g.150948452_150948458del	GRCh38
NC_000007.13:g.150645540_150645546del , CM000669.1:g.150645540_150645546del	GRCh37
NC_000007.12:g.150276473_150276479del	NCBI36
NG_008916.1:g.34471_34477del , LRG_288:g.34471_34477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3513_3519del
ENST00000262186.10:c.2680_2686del MANE Select	ENSP00000262186.5:p.Arg894ThrfsTer?
ENST00000330883.9:c.1660_1666del	ENSP00000328531.4:p.Arg554ThrfsTer?
ENST00000262186.9:c.2680_2686del	ENSP00000262186.5:p.Arg894ThrfsTer?
ENST00000330883.8:c.1660_1666del	ENSP00000328531.4:p.Arg554ThrfsTer?
NM_000238.3:c.2680_2686del , LRG_288t1:c.2680_2686del	NP_000229.1:p.Arg894ThrfsTer?
NM_172057.2:c.1660_1666del , LRG_288t3:c.1660_1666del	NP_742054.1:p.Arg554ThrfsTer?
XM_011516185.1:c.2380_2386del	XP_011514487.1:p.Arg794ThrfsTer?
XM_011516186.1:c.2680_2686del	XP_011514488.1:p.Arg894ThrfsTer?
XM_011516185.2:c.2380_2386del	XP_011514487.1:p.Arg794ThrfsTer?
XM_011516186.3:c.2680_2686del	XP_011514488.1:p.Arg894ThrfsTer?
XM_017012195.1:c.2530_2536del	XP_016867684.1:p.Arg844ThrfsTer?
XM_017012196.1:c.2503_2509del	XP_016867685.1:p.Arg835ThrfsTer?
NM_000238.4:c.2680_2686del MANE Select	NP_000229.1:p.Arg894ThrfsTer?
NM_172057.3:c.1660_1666del	NP_742054.1:p.Arg554ThrfsTer?