Canonical Allele Identifier: CA005703

Gene: KCNH2

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

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