Canonical Allele Identifier: CA007095

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67423
• ClinVar RCV Id: RCV000058148 ; RCV000148534 ; RCV000210414 ; RCV000438782 ; RCV001193784 ; RCV001841714 ; RCV002426617
• dbSNP Id: rs199473432
• ExAC: 7:150645564 C / T
• gnomAD v2: 7-150645564-C-T
• gnomAD v3: 7-150948476-C-T
• gnomAD v4: 7-150948476-C-T
• MyVariant Identifiers: chr7:g.150645564C>T (hg19) ; chr7:g.150645564_150645573delinsTGCTTGCGTT (hg19) ; chr7:g.150948476C>T (hg38) ; chr7:g.150948476_150948485delinsTGCTTGCGTT (hg38)
• PubMed: PMID:15840476 ; PMID:17161064 ; PMID:22378279 ; PMID:22581653 ; PMID:22653970 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948476C>T , CM000669.2:g.150948476C>T	GRCh38
NC_000007.13:g.150645564C>T , CM000669.1:g.150645564C>T	GRCh37
NC_000007.12:g.150276497C>T	NCBI36
NG_008916.1:g.34451G>A , LRG_288:g.34451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3493G>A
ENST00000262186.10:c.2660G>A MANE Select	ENSP00000262186.5:p.Arg887His
ENST00000330883.9:c.1640G>A	ENSP00000328531.4:p.Arg547His
ENST00000262186.9:c.2660G>A	ENSP00000262186.5:p.Arg887His
ENST00000330883.8:c.1640G>A	ENSP00000328531.4:p.Arg547His
NM_000238.3:c.2660G>A , LRG_288t1:c.2660G>A	NP_000229.1:p.Arg887His
NM_172057.2:c.1640G>A , LRG_288t3:c.1640G>A	NP_742054.1:p.Arg547His
XM_011516185.1:c.2360G>A	XP_011514487.1:p.Arg787His
XM_011516186.1:c.2660G>A	XP_011514488.1:p.Arg887His
XM_011516185.2:c.2360G>A	XP_011514487.1:p.Arg787His
XM_011516186.3:c.2660G>A	XP_011514488.1:p.Arg887His
XM_017012195.1:c.2510G>A	XP_016867684.1:p.Arg837His
XM_017012196.1:c.2483G>A	XP_016867685.1:p.Arg828His
NM_000238.4:c.2660G>A MANE Select	NP_000229.1:p.Arg887His
NM_172057.3:c.1640G>A	NP_742054.1:p.Arg547His