Canonical Allele Identifier: CA369853799

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645591T>C (hg19) ; chr7:g.150948503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948503T>C , CM000669.2:g.150948503T>C	GRCh38
NC_000007.13:g.150645591T>C , CM000669.1:g.150645591T>C	GRCh37
NC_000007.12:g.150276524T>C	NCBI36
NG_008916.1:g.34424A>G , LRG_288:g.34424A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3466A>G
ENST00000262186.10:c.2633A>G MANE Select	ENSP00000262186.5:p.Glu878Gly
ENST00000330883.9:c.1613A>G	ENSP00000328531.4:p.Glu538Gly
ENST00000262186.9:c.2633A>G	ENSP00000262186.5:p.Glu878Gly
ENST00000330883.8:c.1613A>G	ENSP00000328531.4:p.Glu538Gly
NM_000238.3:c.2633A>G , LRG_288t1:c.2633A>G	NP_000229.1:p.Glu878Gly
NM_172057.2:c.1613A>G , LRG_288t3:c.1613A>G	NP_742054.1:p.Glu538Gly
XM_011516185.1:c.2333A>G	XP_011514487.1:p.Glu778Gly
XM_011516186.1:c.2633A>G	XP_011514488.1:p.Glu878Gly
XM_011516185.2:c.2333A>G	XP_011514487.1:p.Glu778Gly
XM_011516186.3:c.2633A>G	XP_011514488.1:p.Glu878Gly
XM_017012195.1:c.2483A>G	XP_016867684.1:p.Glu828Gly
XM_017012196.1:c.2456A>G	XP_016867685.1:p.Glu819Gly
NM_000238.4:c.2633A>G MANE Select	NP_000229.1:p.Glu878Gly
NM_172057.3:c.1613A>G	NP_742054.1:p.Glu538Gly