Canonical Allele Identifier: CA369858843

Gene: KCNH2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951721C>T , CM000669.2:g.150951721C>T	GRCh38
NC_000007.13:g.150648809C>T , CM000669.1:g.150648809C>T	GRCh37
NC_000007.12:g.150279742C>T	NCBI36
NG_008916.1:g.31206G>A , LRG_288:g.31206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.970G>A
ENST00000684241.1:n.2505G>A
ENST00000262186.10:c.1672G>A MANE Select	ENSP00000262186.5:p.Ala558Thr
ENST00000330883.9:c.652G>A	ENSP00000328531.4:p.Ala218Thr
ENST00000262186.9:c.1672G>A	ENSP00000262186.5:p.Ala558Thr
ENST00000330883.8:c.652G>A	ENSP00000328531.4:p.Ala218Thr
ENST00000430723.4:c.1324G>A	ENSP00000387657.4:p.Ala442Thr
ENST00000461280.1:n.959G>A
ENST00000473610.5:n.977G>A
ENST00000532957.5:n.1895G>A
NM_000238.3:c.1672G>A , LRG_288t1:c.1672G>A	NP_000229.1:p.Ala558Thr
NM_001204798.1:c.652G>A	NP_001191727.1:p.Ala218Thr
NM_172056.2:c.1672G>A , LRG_288t2:c.1672G>A	NP_742053.1:p.Ala558Thr
NM_172057.2:c.652G>A , LRG_288t3:c.652G>A	NP_742054.1:p.Ala218Thr
XM_011516185.1:c.1372G>A	XP_011514487.1:p.Ala458Thr
XM_011516186.1:c.1672G>A	XP_011514488.1:p.Ala558Thr
XM_011516185.2:c.1372G>A	XP_011514487.1:p.Ala458Thr
XM_011516186.3:c.1672G>A	XP_011514488.1:p.Ala558Thr
XM_017012195.1:c.1522G>A	XP_016867684.1:p.Ala508Thr
XM_017012196.1:c.1495G>A	XP_016867685.1:p.Ala499Thr
NM_000238.4:c.1672G>A MANE Select	NP_000229.1:p.Ala558Thr
NM_001204798.2:c.652G>A	NP_001191727.1:p.Ala218Thr
NM_172057.3:c.652G>A	NP_742054.1:p.Ala218Thr