Canonical Allele Identifier: CA369861649

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1805233
• ClinVar RCV Id: RCV002471651
• MyVariant Identifiers: chr7:g.150654492T>A (hg19) ; chr7:g.150957404T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957404T>A , CM000669.2:g.150957404T>A	GRCh38
NC_000007.13:g.150654492T>A , CM000669.1:g.150654492T>A	GRCh37
NC_000007.12:g.150285425T>A	NCBI36
NG_008916.1:g.25523A>T , LRG_288:g.25523A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1848A>T
ENST00000262186.10:c.1015A>T MANE Select	ENSP00000262186.5:p.Asn339Tyr
ENST00000262186.9:c.1015A>T	ENSP00000262186.5:p.Asn339Tyr
ENST00000430723.4:c.667A>T	ENSP00000387657.4:p.Asn223Tyr
ENST00000532957.5:n.1238A>T
NM_000238.3:c.1015A>T , LRG_288t1:c.1015A>T	NP_000229.1:p.Asn339Tyr
NM_172056.2:c.1015A>T , LRG_288t2:c.1015A>T	NP_742053.1:p.Asn339Tyr
XM_011516185.1:c.715A>T	XP_011514487.1:p.Asn239Tyr
XM_011516186.1:c.1015A>T	XP_011514488.1:p.Asn339Tyr
XM_011516185.2:c.715A>T	XP_011514487.1:p.Asn239Tyr
XM_011516186.3:c.1015A>T	XP_011514488.1:p.Asn339Tyr
XM_017012195.1:c.865A>T	XP_016867684.1:p.Asn289Tyr
XM_017012196.1:c.838A>T	XP_016867685.1:p.Asn280Tyr
NM_000238.4:c.1015A>T MANE Select	NP_000229.1:p.Asn339Tyr