Canonical Allele Identifier: CA658797037

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 519280
• ClinVar RCV Id: RCV000621911 ; RCV001258355 ; RCV002531773
• dbSNP Id: rs1385959174
• gnomAD v4: 7-150948455-C-CGCCT
• MyVariant Identifiers: chr7:g.150645544_150645547dup (hg19) ; chr7:g.150645543_150645544insGCCT (hg19) ; chr7:g.150948456_150948459dup (hg38) ; chr7:g.150948455_150948456insGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948458_150948461dup , CM000669.2:g.150948458_150948461dup	GRCh38
NC_000007.13:g.150645546_150645549dup , CM000669.1:g.150645546_150645549dup	GRCh37
NC_000007.12:g.150276479_150276482dup	NCBI36
NG_008916.1:g.34468_34471dup , LRG_288:g.34468_34471dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3510_3513dup
ENST00000262186.10:c.2677_2680dup MANE Select	ENSP00000262186.5:p.Arg894GlnfsTer27
ENST00000330883.9:c.1657_1660dup	ENSP00000328531.4:p.Arg554GlnfsTer27
ENST00000262186.9:c.2677_2680dup	ENSP00000262186.5:p.Arg894GlnfsTer27
ENST00000330883.8:c.1657_1660dup	ENSP00000328531.4:p.Arg554GlnfsTer27
NM_000238.3:c.2677_2680dup , LRG_288t1:c.2677_2680dup	NP_000229.1:p.Arg894GlnfsTer27
NM_172057.2:c.1657_1660dup , LRG_288t3:c.1657_1660dup	NP_742054.1:p.Arg554GlnfsTer27
XM_011516185.1:c.2377_2380dup	XP_011514487.1:p.Arg794GlnfsTer27
XM_011516186.1:c.2677_2680dup	XP_011514488.1:p.Arg894GlnfsTer?
XM_011516185.2:c.2377_2380dup	XP_011514487.1:p.Arg794GlnfsTer27
XM_011516186.3:c.2677_2680dup	XP_011514488.1:p.Arg894GlnfsTer?
XM_017012195.1:c.2527_2530dup	XP_016867684.1:p.Arg844GlnfsTer27
XM_017012196.1:c.2500_2503dup	XP_016867685.1:p.Arg835GlnfsTer27
NM_000238.4:c.2677_2680dup MANE Select	NP_000229.1:p.Arg894GlnfsTer27
NM_172057.3:c.1657_1660dup	NP_742054.1:p.Arg554GlnfsTer27