Canonical Allele Identifier: CA369860107

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2008771
• ClinVar RCV Id: RCV002828863
• MyVariant Identifiers: chr7:g.150649811T>G (hg19) ; chr7:g.150952723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952723T>G , CM000669.2:g.150952723T>G	GRCh38
NC_000007.13:g.150649811T>G , CM000669.1:g.150649811T>G	GRCh37
NC_000007.12:g.150280744T>G	NCBI36
NG_008916.1:g.30204A>C , LRG_288:g.30204A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.557A>C
ENST00000684116.1:n.152A>C
ENST00000684241.1:n.2092A>C
ENST00000262186.10:c.1259A>C MANE Select	ENSP00000262186.5:p.Tyr420Ser
ENST00000330883.9:c.239A>C	ENSP00000328531.4:p.Tyr80Ser
ENST00000262186.9:c.1259A>C	ENSP00000262186.5:p.Tyr420Ser
ENST00000330883.8:c.239A>C	ENSP00000328531.4:p.Tyr80Ser
ENST00000430723.4:c.911A>C	ENSP00000387657.4:p.Tyr304Ser
ENST00000461280.1:n.546A>C
ENST00000473610.5:n.564A>C
ENST00000532957.5:n.1482A>C
NM_000238.3:c.1259A>C , LRG_288t1:c.1259A>C	NP_000229.1:p.Tyr420Ser
NM_001204798.1:c.239A>C	NP_001191727.1:p.Tyr80Ser
NM_172056.2:c.1259A>C , LRG_288t2:c.1259A>C	NP_742053.1:p.Tyr420Ser
NM_172057.2:c.239A>C , LRG_288t3:c.239A>C	NP_742054.1:p.Tyr80Ser
XM_011516185.1:c.959A>C	XP_011514487.1:p.Tyr320Ser
XM_011516186.1:c.1259A>C	XP_011514488.1:p.Tyr420Ser
XM_011516185.2:c.959A>C	XP_011514487.1:p.Tyr320Ser
XM_011516186.3:c.1259A>C	XP_011514488.1:p.Tyr420Ser
XM_017012195.1:c.1109A>C	XP_016867684.1:p.Tyr370Ser
XM_017012196.1:c.1082A>C	XP_016867685.1:p.Tyr361Ser
NM_000238.4:c.1259A>C MANE Select	NP_000229.1:p.Tyr420Ser
NM_001204798.2:c.239A>C	NP_001191727.1:p.Tyr80Ser
NM_172057.3:c.239A>C	NP_742054.1:p.Tyr80Ser