Canonical Allele Identifier: CA008974
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67542
ClinVar RCV Id: RCV000058271 RCV001854211
dbSNP Id: rs199472883
gnomAD v4: 7-150958073-C-A
MyVariant Identifiers: chr7:g.150655161C>A (hg19) chr7:g.150958073C>A (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958073C>A , CM000669.2:g.150958073C>A GRCh38
NC_000007.13:g.150655161C>A , CM000669.1:g.150655161C>A GRCh37
NC_000007.12:g.150286094C>A NCBI36
NG_008916.1:g.24854G>T , LRG_288:g.24854G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1735G>T
ENST00000262186.10:c.902G>T MANE Select ENSP00000262186.5:p.Arg301Leu
ENST00000262186.9:c.902G>T ENSP00000262186.5:p.Arg301Leu
ENST00000430723.4:c.554G>T ENSP00000387657.4:p.Arg185Leu
ENST00000532957.5:n.1125G>T
NM_000238.3:c.902G>T , LRG_288t1:c.902G>T NP_000229.1:p.Arg301Leu
NM_172056.2:c.902G>T , LRG_288t2:c.902G>T NP_742053.1:p.Arg301Leu
XM_011516185.1:c.602G>T XP_011514487.1:p.Arg201Leu
XM_011516186.1:c.902G>T XP_011514488.1:p.Arg301Leu
XM_011516185.2:c.602G>T XP_011514487.1:p.Arg201Leu
XM_011516186.3:c.902G>T XP_011514488.1:p.Arg301Leu
XM_017012195.1:c.752G>T XP_016867684.1:p.Arg251Leu
XM_017012196.1:c.725G>T XP_016867685.1:p.Arg242Leu
NM_000238.4:c.902G>T MANE Select NP_000229.1:p.Arg301Leu
Search 100 bp 5'
Search 100 bp 3'