Canonical Allele Identifier: CA369858083

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2076245
• ClinVar RCV Id: RCV002979177
• MyVariant Identifiers: chr7:g.150648702T>C (hg19) ; chr7:g.150951614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951614T>C , CM000669.2:g.150951614T>C	GRCh38
NC_000007.13:g.150648702T>C , CM000669.1:g.150648702T>C	GRCh37
NC_000007.12:g.150279635T>C	NCBI36
NG_008916.1:g.31313A>G , LRG_288:g.31313A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1077A>G
ENST00000684241.1:n.2612A>G
ENST00000262186.10:c.1779A>G MANE Select	ENSP00000262186.5:p.Ile593Met
ENST00000330883.9:c.759A>G	ENSP00000328531.4:p.Ile253Met
ENST00000262186.9:c.1779A>G	ENSP00000262186.5:p.Ile593Met
ENST00000330883.8:c.759A>G	ENSP00000328531.4:p.Ile253Met
ENST00000430723.4:c.1431A>G	ENSP00000387657.4:p.Ile477Met
ENST00000461280.1:n.1066A>G
ENST00000473610.5:n.1084A>G
ENST00000532957.5:n.2002A>G
NM_000238.3:c.1779A>G , LRG_288t1:c.1779A>G	NP_000229.1:p.Ile593Met
NM_001204798.1:c.759A>G	NP_001191727.1:p.Ile253Met
NM_172056.2:c.1779A>G , LRG_288t2:c.1779A>G	NP_742053.1:p.Ile593Met
NM_172057.2:c.759A>G , LRG_288t3:c.759A>G	NP_742054.1:p.Ile253Met
XM_011516185.1:c.1479A>G	XP_011514487.1:p.Ile493Met
XM_011516186.1:c.1779A>G	XP_011514488.1:p.Ile593Met
XM_011516185.2:c.1479A>G	XP_011514487.1:p.Ile493Met
XM_011516186.3:c.1779A>G	XP_011514488.1:p.Ile593Met
XM_017012195.1:c.1629A>G	XP_016867684.1:p.Ile543Met
XM_017012196.1:c.1602A>G	XP_016867685.1:p.Ile534Met
NM_000238.4:c.1779A>G MANE Select	NP_000229.1:p.Ile593Met
NM_001204798.2:c.759A>G	NP_001191727.1:p.Ile253Met
NM_172057.3:c.759A>G	NP_742054.1:p.Ile253Met