Canonical Allele Identifier: CA458871399

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773441
• ClinVar RCV Id: RCV003592266
• dbSNP Id: rs1476814451
• gnomAD v2: 7-150647445-G-A
• gnomAD v4: 7-150950357-G-A
• MyVariant Identifiers: chr7:g.150647445G>A (hg19) ; chr7:g.150950357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950357G>A , CM000669.2:g.150950357G>A	GRCh38
NC_000007.13:g.150647445G>A , CM000669.1:g.150647445G>A	GRCh37
NC_000007.12:g.150278378G>A	NCBI36
NG_008916.1:g.32570C>T , LRG_288:g.32570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1507C>T
ENST00000684241.1:n.3042C>T
ENST00000262186.10:c.2209C>T MANE Select	ENSP00000262186.5:p.Leu737=
ENST00000330883.9:c.1189C>T	ENSP00000328531.4:p.Leu397=
ENST00000262186.9:c.2209C>T	ENSP00000262186.5:p.Leu737=
ENST00000330883.8:c.1189C>T	ENSP00000328531.4:p.Leu397=
ENST00000430723.4:c.1861C>T	ENSP00000387657.4:p.Leu621=
ENST00000461280.1:n.1496C>T
ENST00000473610.5:n.1841C>T
ENST00000532957.5:n.2432C>T
NM_000238.3:c.2209C>T , LRG_288t1:c.2209C>T	NP_000229.1:p.Leu737=
NM_001204798.1:c.1189C>T	NP_001191727.1:p.Leu397=
NM_172056.2:c.2209C>T , LRG_288t2:c.2209C>T	NP_742053.1:p.Leu737=
NM_172057.2:c.1189C>T , LRG_288t3:c.1189C>T	NP_742054.1:p.Leu397=
XM_011516185.1:c.1909C>T	XP_011514487.1:p.Leu637=
XM_011516186.1:c.2209C>T	XP_011514488.1:p.Leu737=
XM_011516185.2:c.1909C>T	XP_011514487.1:p.Leu637=
XM_011516186.3:c.2209C>T	XP_011514488.1:p.Leu737=
XM_017012195.1:c.2059C>T	XP_016867684.1:p.Leu687=
XM_017012196.1:c.2032C>T	XP_016867685.1:p.Leu678=
NM_000238.4:c.2209C>T MANE Select	NP_000229.1:p.Leu737=
NM_001204798.2:c.1189C>T	NP_001191727.1:p.Leu397=
NM_172057.3:c.1189C>T	NP_742054.1:p.Leu397=