Canonical Allele Identifier: CA005703
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67299
ClinVar RCV Id: RCV000058017 RCV001208803 RCV000845307 RCV001781395
dbSNP Id: rs199472948
MyVariant Identifiers: chr7:g.150648619C>T (hg19) chr7:g.150951531C>T (hg38)
PubMed: PMID:11222472 PMID:11468227 PMID:11668638 PMID:14998624 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951531C>T , CM000669.2:g.150951531C>T GRCh38
NC_000007.13:g.150648619C>T , CM000669.1:g.150648619C>T GRCh37
NC_000007.12:g.150279552C>T NCBI36
NG_008916.1:g.31396G>A , LRG_288:g.31396G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1160G>A
ENST00000684241.1:n.2695G>A
ENST00000262186.10:c.1862G>A MANE Select ENSP00000262186.5:p.Ser621Asn
ENST00000330883.9:c.842G>A ENSP00000328531.4:p.Ser281Asn
ENST00000262186.9:c.1862G>A ENSP00000262186.5:p.Ser621Asn
ENST00000330883.8:c.842G>A ENSP00000328531.4:p.Ser281Asn
ENST00000430723.4:c.1514G>A ENSP00000387657.4:p.Ser505Asn
ENST00000461280.1:n.1149G>A
ENST00000473610.5:n.1167G>A
ENST00000532957.5:n.2085G>A
NM_000238.3:c.1862G>A , LRG_288t1:c.1862G>A NP_000229.1:p.Ser621Asn
NM_001204798.1:c.842G>A NP_001191727.1:p.Ser281Asn
NM_172056.2:c.1862G>A , LRG_288t2:c.1862G>A NP_742053.1:p.Ser621Asn
NM_172057.2:c.842G>A , LRG_288t3:c.842G>A NP_742054.1:p.Ser281Asn
XM_011516185.1:c.1562G>A XP_011514487.1:p.Ser521Asn
XM_011516186.1:c.1862G>A XP_011514488.1:p.Ser621Asn
XM_011516185.2:c.1562G>A XP_011514487.1:p.Ser521Asn
XM_011516186.3:c.1862G>A XP_011514488.1:p.Ser621Asn
XM_017012195.1:c.1712G>A XP_016867684.1:p.Ser571Asn
XM_017012196.1:c.1685G>A XP_016867685.1:p.Ser562Asn
NM_000238.4:c.1862G>A MANE Select NP_000229.1:p.Ser621Asn
NM_001204798.2:c.842G>A NP_001191727.1:p.Ser281Asn
NM_172057.3:c.842G>A NP_742054.1:p.Ser281Asn
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