Canonical Allele Identifier: CA369858821

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1055024
• ClinVar RCV Id: RCV001363625
• dbSNP Id: rs2116963315
• gnomAD v4: 7-150951715-T-C
• MyVariant Identifiers: chr7:g.150648803T>C (hg19) ; chr7:g.150951715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951715T>C , CM000669.2:g.150951715T>C	GRCh38
NC_000007.13:g.150648803T>C , CM000669.1:g.150648803T>C	GRCh37
NC_000007.12:g.150279736T>C	NCBI36
NG_008916.1:g.31212A>G , LRG_288:g.31212A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.976A>G
ENST00000684241.1:n.2511A>G
ENST00000262186.10:c.1678A>G MANE Select	ENSP00000262186.5:p.Ile560Val
ENST00000330883.9:c.658A>G	ENSP00000328531.4:p.Ile220Val
ENST00000262186.9:c.1678A>G	ENSP00000262186.5:p.Ile560Val
ENST00000330883.8:c.658A>G	ENSP00000328531.4:p.Ile220Val
ENST00000430723.4:c.1330A>G	ENSP00000387657.4:p.Ile444Val
ENST00000461280.1:n.965A>G
ENST00000473610.5:n.983A>G
ENST00000532957.5:n.1901A>G
NM_000238.3:c.1678A>G , LRG_288t1:c.1678A>G	NP_000229.1:p.Ile560Val
NM_001204798.1:c.658A>G	NP_001191727.1:p.Ile220Val
NM_172056.2:c.1678A>G , LRG_288t2:c.1678A>G	NP_742053.1:p.Ile560Val
NM_172057.2:c.658A>G , LRG_288t3:c.658A>G	NP_742054.1:p.Ile220Val
XM_011516185.1:c.1378A>G	XP_011514487.1:p.Ile460Val
XM_011516186.1:c.1678A>G	XP_011514488.1:p.Ile560Val
XM_011516185.2:c.1378A>G	XP_011514487.1:p.Ile460Val
XM_011516186.3:c.1678A>G	XP_011514488.1:p.Ile560Val
XM_017012195.1:c.1528A>G	XP_016867684.1:p.Ile510Val
XM_017012196.1:c.1501A>G	XP_016867685.1:p.Ile501Val
NM_000238.4:c.1678A>G MANE Select	NP_000229.1:p.Ile560Val
NM_001204798.2:c.658A>G	NP_001191727.1:p.Ile220Val
NM_172057.3:c.658A>G	NP_742054.1:p.Ile220Val