Canonical Allele Identifier: CA369856072

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 977169
• ClinVar RCV Id: RCV001254742
• dbSNP Id: rs1801085857
• MyVariant Identifiers: chr7:g.150647309A>G (hg19) ; chr7:g.150950221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950221A>G , CM000669.2:g.150950221A>G	GRCh38
NC_000007.13:g.150647309A>G , CM000669.1:g.150647309A>G	GRCh37
NC_000007.12:g.150278242A>G	NCBI36
NG_008916.1:g.32706T>C , LRG_288:g.32706T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1643T>C
ENST00000684241.1:n.3178T>C
ENST00000262186.10:c.2345T>C MANE Select	ENSP00000262186.5:p.Ile782Thr
ENST00000330883.9:c.1325T>C	ENSP00000328531.4:p.Ile442Thr
ENST00000262186.9:c.2345T>C	ENSP00000262186.5:p.Ile782Thr
ENST00000330883.8:c.1325T>C	ENSP00000328531.4:p.Ile442Thr
ENST00000430723.4:c.1997T>C	ENSP00000387657.4:p.Ile666Thr
ENST00000461280.1:n.1632T>C
ENST00000473610.5:n.1977T>C
ENST00000532957.5:n.2568T>C
NM_000238.3:c.2345T>C , LRG_288t1:c.2345T>C	NP_000229.1:p.Ile782Thr
NM_001204798.1:c.1325T>C	NP_001191727.1:p.Ile442Thr
NM_172056.2:c.2345T>C , LRG_288t2:c.2345T>C	NP_742053.1:p.Ile782Thr
NM_172057.2:c.1325T>C , LRG_288t3:c.1325T>C	NP_742054.1:p.Ile442Thr
XM_011516185.1:c.2045T>C	XP_011514487.1:p.Ile682Thr
XM_011516186.1:c.2345T>C	XP_011514488.1:p.Ile782Thr
XM_011516185.2:c.2045T>C	XP_011514487.1:p.Ile682Thr
XM_011516186.3:c.2345T>C	XP_011514488.1:p.Ile782Thr
XM_017012195.1:c.2195T>C	XP_016867684.1:p.Ile732Thr
XM_017012196.1:c.2168T>C	XP_016867685.1:p.Ile723Thr
NM_000238.4:c.2345T>C MANE Select	NP_000229.1:p.Ile782Thr
NM_001204798.2:c.1325T>C	NP_001191727.1:p.Ile442Thr
NM_172057.3:c.1325T>C	NP_742054.1:p.Ile442Thr