Canonical Allele Identifier: CA005518
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67278
ClinVar RCV Id: RCV000057994
dbSNP Id: rs199472935
MyVariant Identifiers: chr7:g.150648684G>T (hg19) chr7:g.150951596G>T (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951596G>T , CM000669.2:g.150951596G>T GRCh38
NC_000007.13:g.150648684G>T , CM000669.1:g.150648684G>T GRCh37
NC_000007.12:g.150279617G>T NCBI36
NG_008916.1:g.31331C>A , LRG_288:g.31331C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1095C>A
ENST00000684241.1:n.2630C>A
ENST00000262186.10:c.1797C>A MANE Select ENSP00000262186.5:p.Ser599Arg
ENST00000330883.9:c.777C>A ENSP00000328531.4:p.Ser259Arg
ENST00000262186.9:c.1797C>A ENSP00000262186.5:p.Ser599Arg
ENST00000330883.8:c.777C>A ENSP00000328531.4:p.Ser259Arg
ENST00000430723.4:c.1449C>A ENSP00000387657.4:p.Ser483Arg
ENST00000461280.1:n.1084C>A
ENST00000473610.5:n.1102C>A
ENST00000532957.5:n.2020C>A
NM_000238.3:c.1797C>A , LRG_288t1:c.1797C>A NP_000229.1:p.Ser599Arg
NM_001204798.1:c.777C>A NP_001191727.1:p.Ser259Arg
NM_172056.2:c.1797C>A , LRG_288t2:c.1797C>A NP_742053.1:p.Ser599Arg
NM_172057.2:c.777C>A , LRG_288t3:c.777C>A NP_742054.1:p.Ser259Arg
XM_011516185.1:c.1497C>A XP_011514487.1:p.Ser499Arg
XM_011516186.1:c.1797C>A XP_011514488.1:p.Ser599Arg
XM_011516185.2:c.1497C>A XP_011514487.1:p.Ser499Arg
XM_011516186.3:c.1797C>A XP_011514488.1:p.Ser599Arg
XM_017012195.1:c.1647C>A XP_016867684.1:p.Ser549Arg
XM_017012196.1:c.1620C>A XP_016867685.1:p.Ser540Arg
NM_000238.4:c.1797C>A MANE Select NP_000229.1:p.Ser599Arg
NM_001204798.2:c.777C>A NP_001191727.1:p.Ser259Arg
NM_172057.3:c.777C>A NP_742054.1:p.Ser259Arg
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