Canonical Allele Identifier: CA369863734

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1489499
• ClinVar RCV Id: RCV001980657
• dbSNP Id: rs2117011932
• MyVariant Identifiers: chr7:g.150656731T>C (hg19) ; chr7:g.150959643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959643T>C , CM000669.2:g.150959643T>C	GRCh38
NC_000007.13:g.150656731T>C , CM000669.1:g.150656731T>C	GRCh37
NC_000007.12:g.150287664T>C	NCBI36
NG_008916.1:g.23284A>G , LRG_288:g.23284A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1234A>G
ENST00000262186.10:c.401A>G MANE Select	ENSP00000262186.5:p.Glu134Gly
ENST00000262186.9:c.401A>G	ENSP00000262186.5:p.Glu134Gly
ENST00000430723.4:c.224A>G	ENSP00000387657.4:p.Glu75Gly
ENST00000532957.5:n.624A>G
NM_000238.3:c.401A>G , LRG_288t1:c.401A>G	NP_000229.1:p.Glu134Gly
NM_172056.2:c.401A>G , LRG_288t2:c.401A>G	NP_742053.1:p.Glu134Gly
XM_011516185.1:c.101A>G	XP_011514487.1:p.Glu34Gly
XM_011516186.1:c.401A>G	XP_011514488.1:p.Glu134Gly
XM_011516185.2:c.101A>G	XP_011514487.1:p.Glu34Gly
XM_011516186.3:c.401A>G	XP_011514488.1:p.Glu134Gly
XM_017012195.1:c.251A>G	XP_016867684.1:p.Glu84Gly
XM_017012196.1:c.224A>G	XP_016867685.1:p.Glu75Gly
NM_000238.4:c.401A>G MANE Select	NP_000229.1:p.Glu134Gly