Canonical Allele Identifier: CA369856002

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3071731
• ClinVar RCV Id: RCV004016225
• gnomAD v4: 7-150950182-A-C
• MyVariant Identifiers: chr7:g.150647270A>C (hg19) ; chr7:g.150950182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950182A>C , CM000669.2:g.150950182A>C	GRCh38
NC_000007.13:g.150647270A>C , CM000669.1:g.150647270A>C	GRCh37
NC_000007.12:g.150278203A>C	NCBI36
NG_008916.1:g.32745T>G , LRG_288:g.32745T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1682T>G
ENST00000684241.1:n.3217T>G
ENST00000262186.10:c.2384T>G MANE Select	ENSP00000262186.5:p.Val795Gly
ENST00000330883.9:c.1364T>G	ENSP00000328531.4:p.Val455Gly
ENST00000262186.9:c.2384T>G	ENSP00000262186.5:p.Val795Gly
ENST00000330883.8:c.1364T>G	ENSP00000328531.4:p.Val455Gly
ENST00000430723.4:c.2036T>G	ENSP00000387657.4:p.Val679Gly
ENST00000461280.1:n.1671T>G
ENST00000473610.5:n.2016T>G
ENST00000532957.5:n.2607T>G
NM_000238.3:c.2384T>G , LRG_288t1:c.2384T>G	NP_000229.1:p.Val795Gly
NM_001204798.1:c.1364T>G	NP_001191727.1:p.Val455Gly
NM_172056.2:c.2384T>G , LRG_288t2:c.2384T>G	NP_742053.1:p.Val795Gly
NM_172057.2:c.1364T>G , LRG_288t3:c.1364T>G	NP_742054.1:p.Val455Gly
XM_011516185.1:c.2084T>G	XP_011514487.1:p.Val695Gly
XM_011516186.1:c.2384T>G	XP_011514488.1:p.Val795Gly
XM_011516185.2:c.2084T>G	XP_011514487.1:p.Val695Gly
XM_011516186.3:c.2384T>G	XP_011514488.1:p.Val795Gly
XM_017012195.1:c.2234T>G	XP_016867684.1:p.Val745Gly
XM_017012196.1:c.2207T>G	XP_016867685.1:p.Val736Gly
NM_000238.4:c.2384T>G MANE Select	NP_000229.1:p.Val795Gly
NM_001204798.2:c.1364T>G	NP_001191727.1:p.Val455Gly
NM_172057.3:c.1364T>G	NP_742054.1:p.Val455Gly