Canonical Allele Identifier: CA004238

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200325
• ClinVar RCV Id: RCV000181781 ; RCV001852291
• dbSNP Id: rs794728365
• MyVariant Identifiers: chr7:g.150649943T>C (hg19) ; chr7:g.150952855T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952855T>C , CM000669.2:g.150952855T>C	GRCh38
NC_000007.13:g.150649943T>C , CM000669.1:g.150649943T>C	GRCh37
NC_000007.12:g.150280876T>C	NCBI36
NG_008916.1:g.30072A>G , LRG_288:g.30072A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.427-2A>G
ENST00000684116.1:n.20A>G
ENST00000684241.1:n.1962-2A>G
ENST00000262186.10:c.1129-2A>G MANE Select	ENSP00000262186.5:n.1129-2A>G
ENST00000330883.9:c.109-2A>G	ENSP00000328531.4:n.109-2A>G
ENST00000262186.9:c.1129-2A>G	ENSP00000262186.5:n.1129-2A>G
ENST00000330883.8:c.109-2A>G	ENSP00000328531.4:n.109-2A>G
ENST00000430723.4:c.781-2A>G	ENSP00000387657.4:n.781-2A>G
ENST00000461280.1:n.416-2A>G
ENST00000473610.5:n.434-2A>G
ENST00000532957.5:n.1352-2A>G
NM_000238.3:c.1129-2A>G , LRG_288t1:c.1129-2A>G	NP_000229.1:n.1129-2A>G
NM_001204798.1:c.109-2A>G	NP_001191727.1:n.109-2A>G
NM_172056.2:c.1129-2A>G , LRG_288t2:c.1129-2A>G	NP_742053.1:n.1129-2A>G
NM_172057.2:c.109-2A>G , LRG_288t3:c.109-2A>G	NP_742054.1:n.109-2A>G
XM_011516185.1:c.829-2A>G	XP_011514487.1:n.829-2A>G
XM_011516186.1:c.1129-2A>G	XP_011514488.1:n.1129-2A>G
XM_011516185.2:c.829-2A>G	XP_011514487.1:n.829-2A>G
XM_011516186.3:c.1129-2A>G	XP_011514488.1:n.1129-2A>G
XM_017012195.1:c.979-2A>G	XP_016867684.1:n.979-2A>G
XM_017012196.1:c.952-2A>G	XP_016867685.1:n.952-2A>G
NM_000238.4:c.1129-2A>G MANE Select	NP_000229.1:n.1129-2A>G
NM_001204798.2:c.109-2A>G	NP_001191727.1:n.109-2A>G
NM_172057.3:c.109-2A>G	NP_742054.1:n.109-2A>G