Canonical Allele Identifier: CA006024
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67335
ClinVar RCV Id: RCV000058054
dbSNP Id: rs199473415
MyVariant Identifiers: chr7:g.150671915C>T (hg19) chr7:g.150974827C>T (hg38)
PubMed: PMID:12566525 PMID:19841300 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974827C>T , CM000669.2:g.150974827C>T GRCh38
NC_000007.13:g.150671915C>T , CM000669.1:g.150671915C>T GRCh37
NC_000007.12:g.150302848C>T NCBI36
NG_008916.1:g.8100G>A , LRG_288:g.8100G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.191G>A MANE Select ENSP00000262186.5:p.Cys64Tyr
ENST00000262186.9:c.191G>A ENSP00000262186.5:p.Cys64Tyr
ENST00000430723.4:c.14G>A ENSP00000387657.4:p.Cys5Tyr
ENST00000532957.5:n.414G>A
NM_000238.3:c.191G>A , LRG_288t1:c.191G>A NP_000229.1:p.Cys64Tyr
NM_172056.2:c.191G>A , LRG_288t2:c.191G>A NP_742053.1:p.Cys64Tyr
XM_011516186.1:c.191G>A XP_011514488.1:p.Cys64Tyr
XM_011516186.3:c.191G>A XP_011514488.1:p.Cys64Tyr
XM_017012196.1:c.14G>A XP_016867685.1:p.Cys5Tyr
NM_000238.4:c.191G>A MANE Select NP_000229.1:p.Cys64Tyr
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