Canonical Allele Identifier: CA008521

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67508
• ClinVar RCV Id: RCV000058237 ; RCV000202703 ; RCV000473244 ; RCV002223182 ; RCV002498337 ; RCV003298114
• dbSNP Id: rs199472866
• ExAC: 7:150655572 C / T
• gnomAD v2: 7-150655572-C-T
• gnomAD v3: 7-150958484-C-T
• gnomAD v4: 7-150958484-C-T
• MyVariant Identifiers: chr7:g.150655572C>T (hg19) ; chr7:g.150958484C>T (hg38)
• PubMed: PMID:19716085 ; PMID:22429796 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958484C>T , CM000669.2:g.150958484C>T	GRCh38
NC_000007.13:g.150655572C>T , CM000669.1:g.150655572C>T	GRCh37
NC_000007.12:g.150286505C>T	NCBI36
NG_008916.1:g.24443G>A , LRG_288:g.24443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1324G>A
ENST00000262186.10:c.491G>A MANE Select	ENSP00000262186.5:p.Arg164His
ENST00000262186.9:c.491G>A	ENSP00000262186.5:p.Arg164His
ENST00000430723.4:c.235-92G>A	ENSP00000387657.4:n.235-92G>A
ENST00000532957.5:n.714G>A
NM_000238.3:c.491G>A , LRG_288t1:c.491G>A	NP_000229.1:p.Arg164His
NM_172056.2:c.491G>A , LRG_288t2:c.491G>A	NP_742053.1:p.Arg164His
XM_011516185.1:c.191G>A	XP_011514487.1:p.Arg64His
XM_011516186.1:c.491G>A	XP_011514488.1:p.Arg164His
XM_011516185.2:c.191G>A	XP_011514487.1:p.Arg64His
XM_011516186.3:c.491G>A	XP_011514488.1:p.Arg164His
XM_017012195.1:c.341G>A	XP_016867684.1:p.Arg114His
XM_017012196.1:c.314G>A	XP_016867685.1:p.Arg105His
NM_000238.4:c.491G>A MANE Select	NP_000229.1:p.Arg164His