Canonical Allele Identifier: CA16618403

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 418246
• ClinVar RCV Id: RCV000481087 ; RCV001348803 ; RCV001841393
• dbSNP Id: rs1064793147
• gnomAD v4: 7-150948980-C-T
• MyVariant Identifiers: chr7:g.150646068C>T (hg19) ; chr7:g.150948980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948980C>T , CM000669.2:g.150948980C>T	GRCh38
NC_000007.13:g.150646068C>T , CM000669.1:g.150646068C>T	GRCh37
NC_000007.12:g.150277001C>T	NCBI36
NG_008916.1:g.33947G>A , LRG_288:g.33947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3301G>A
ENST00000262186.10:c.2468G>A MANE Select	ENSP00000262186.5:p.Arg823Gln
ENST00000330883.9:c.1448G>A	ENSP00000328531.4:p.Arg483Gln
ENST00000262186.9:c.2468G>A	ENSP00000262186.5:p.Arg823Gln
ENST00000330883.8:c.1448G>A	ENSP00000328531.4:p.Arg483Gln
NM_000238.3:c.2468G>A , LRG_288t1:c.2468G>A	NP_000229.1:p.Arg823Gln
NM_172057.2:c.1448G>A , LRG_288t3:c.1448G>A	NP_742054.1:p.Arg483Gln
XM_011516185.1:c.2168G>A	XP_011514487.1:p.Arg723Gln
XM_011516186.1:c.2468G>A	XP_011514488.1:p.Arg823Gln
XM_011516185.2:c.2168G>A	XP_011514487.1:p.Arg723Gln
XM_011516186.3:c.2468G>A	XP_011514488.1:p.Arg823Gln
XM_017012195.1:c.2318G>A	XP_016867684.1:p.Arg773Gln
XM_017012196.1:c.2291G>A	XP_016867685.1:p.Arg764Gln
NM_000238.4:c.2468G>A MANE Select	NP_000229.1:p.Arg823Gln
NM_172057.3:c.1448G>A	NP_742054.1:p.Arg483Gln