Canonical Allele Identifier: CA007902
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67466
ClinVar RCV Id: RCV000058194 RCV000703148 RCV000987997 RCV001841739 RCV002490646 RCV004019012
dbSNP Id: rs199473020
ExAC: 7:150644473 C / T
gnomAD v2: 7-150644473-C-T
gnomAD v3: 7-150947385-C-T
gnomAD v4: 7-150947385-C-T
MyVariant Identifiers: chr7:g.150644473C>T (hg19) chr7:g.150947385C>T (hg38)
PubMed: PMID:20541041 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947385C>T , CM000669.2:g.150947385C>T GRCh38
NC_000007.13:g.150644473C>T , CM000669.1:g.150644473C>T GRCh37
NC_000007.12:g.150275406C>T NCBI36
NG_008916.1:g.35542G>A , LRG_288:g.35542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3928G>A
ENST00000262186.10:c.3095G>A MANE Select ENSP00000262186.5:p.Arg1032Gln
ENST00000330883.9:c.2075G>A ENSP00000328531.4:p.Arg692Gln
ENST00000262186.9:c.3095G>A ENSP00000262186.5:p.Arg1032Gln
ENST00000330883.8:c.2075G>A ENSP00000328531.4:p.Arg692Gln
NM_000238.3:c.3095G>A , LRG_288t1:c.3095G>A NP_000229.1:p.Arg1032Gln
NM_172057.2:c.2075G>A , LRG_288t3:c.2075G>A NP_742054.1:p.Arg692Gln
XM_011516185.1:c.2795G>A XP_011514487.1:p.Arg932Gln
XM_011516185.2:c.2795G>A XP_011514487.1:p.Arg932Gln
XM_017012195.1:c.2945G>A XP_016867684.1:p.Arg982Gln
XM_017012196.1:c.2918G>A XP_016867685.1:p.Arg973Gln
NM_000238.4:c.3095G>A MANE Select NP_000229.1:p.Arg1032Gln
NM_172057.3:c.2075G>A NP_742054.1:p.Arg692Gln
Search 100 bp 5'
Search 100 bp 3'