Canonical Allele Identifier: CA005481
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67273
ClinVar RCV Id: RCV000057989
dbSNP Id: rs199473521
MyVariant Identifiers: chr7:g.150648696T>A (hg19) chr7:g.150951608T>A (hg38)
PubMed: PMID:19926013 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951608T>A , CM000669.2:g.150951608T>A GRCh38
NC_000007.13:g.150648696T>A , CM000669.1:g.150648696T>A GRCh37
NC_000007.12:g.150279629T>A NCBI36
NG_008916.1:g.31319A>T , LRG_288:g.31319A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1083A>T
ENST00000684241.1:n.2618A>T
ENST00000262186.10:c.1785A>T MANE Select ENSP00000262186.5:p.Lys595Asn
ENST00000330883.9:c.765A>T ENSP00000328531.4:p.Lys255Asn
ENST00000262186.9:c.1785A>T ENSP00000262186.5:p.Lys595Asn
ENST00000330883.8:c.765A>T ENSP00000328531.4:p.Lys255Asn
ENST00000430723.4:c.1437A>T ENSP00000387657.4:p.Lys479Asn
ENST00000461280.1:n.1072A>T
ENST00000473610.5:n.1090A>T
ENST00000532957.5:n.2008A>T
NM_000238.3:c.1785A>T , LRG_288t1:c.1785A>T NP_000229.1:p.Lys595Asn
NM_001204798.1:c.765A>T NP_001191727.1:p.Lys255Asn
NM_172056.2:c.1785A>T , LRG_288t2:c.1785A>T NP_742053.1:p.Lys595Asn
NM_172057.2:c.765A>T , LRG_288t3:c.765A>T NP_742054.1:p.Lys255Asn
XM_011516185.1:c.1485A>T XP_011514487.1:p.Lys495Asn
XM_011516186.1:c.1785A>T XP_011514488.1:p.Lys595Asn
XM_011516185.2:c.1485A>T XP_011514487.1:p.Lys495Asn
XM_011516186.3:c.1785A>T XP_011514488.1:p.Lys595Asn
XM_017012195.1:c.1635A>T XP_016867684.1:p.Lys545Asn
XM_017012196.1:c.1608A>T XP_016867685.1:p.Lys536Asn
NM_000238.4:c.1785A>T MANE Select NP_000229.1:p.Lys595Asn
NM_001204798.2:c.765A>T NP_001191727.1:p.Lys255Asn
NM_172057.3:c.765A>T NP_742054.1:p.Lys255Asn
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