Canonical Allele Identifier: CA305328
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200672
ClinVar RCV Id: RCV000015520 RCV000015521 RCV000181993 RCV000204205 RCV000249424
dbSNP Id: rs794728455
gnomAD v2: 7-150644883-G-GC
gnomAD v3: 7-150947795-G-GC
gnomAD v4: 7-150947795-G-GC
COSMIC: COSM4612693 COSM4612694
MyVariant Identifiers: chr7:g.150644884dupC (hg19) chr7:g.150644884_150644885insC (hg19) chr7:g.150644883_150644884insC (hg19) chr7:g.150947796dupC (hg38) chr7:g.150947796_150947797insC (hg38) chr7:g.150947795_150947796insC (hg38)
PubMed: PMID:10973849 PMID:20181576 PMID:21419236 PMID:27000522
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947802dup , CM000669.2:g.150947802dup GRCh38
NC_000007.13:g.150644890dup , CM000669.1:g.150644890dup GRCh37
NC_000007.12:g.150275823dup NCBI36
NG_008916.1:g.35131dup , LRG_288:g.35131dup

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3608dup
ENST00000262186.10:c.2775dup MANE Select ENSP00000262186.5:p.Pro926AlafsTer14
ENST00000330883.9:c.1755dup ENSP00000328531.4:p.Pro586AlafsTer14
ENST00000262186.9:c.2775dup ENSP00000262186.5:p.Pro926AlafsTer14
ENST00000330883.8:c.1755dup ENSP00000328531.4:p.Pro586AlafsTer14
NM_000238.3:c.2775dup , LRG_288t1:c.2775dup NP_000229.1:p.Pro926AlafsTer14
NM_172057.2:c.1755dup , LRG_288t3:c.1755dup NP_742054.1:p.Pro586AlafsTer14
XM_011516185.1:c.2475dup XP_011514487.1:p.Pro826AlafsTer14
XM_011516186.1:c.2693-105dup XP_011514488.1:n.2693-105dup
XM_011516185.2:c.2475dup XP_011514487.1:p.Pro826AlafsTer14
XM_011516186.3:c.2693-105dup XP_011514488.1:n.2693-105dup
XM_017012195.1:c.2625dup XP_016867684.1:p.Pro876AlafsTer14
XM_017012196.1:c.2598dup XP_016867685.1:p.Pro867AlafsTer14
NM_000238.4:c.2775dup MANE Select NP_000229.1:p.Pro926AlafsTer14
NM_172057.3:c.1755dup NP_742054.1:p.Pro586AlafsTer14
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