Canonical Allele Identifier: CA458645830

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 918351
• ClinVar RCV Id: RCV001842632
• dbSNP Id: rs1801236226
• gnomAD v4: 7-150952848-C-T
• MyVariant Identifiers: chr7:g.150649936C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952848C>T , CM000669.2:g.150952848C>T	GRCh38
NC_000007.13:g.150649936C>T , CM000669.1:g.150649936C>T	GRCh37
NC_000007.12:g.150280869C>T	NCBI36
NG_008916.1:g.30079G>A , LRG_288:g.30079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.432G>A
ENST00000684116.1:n.27G>A
ENST00000684241.1:n.1967G>A
ENST00000262186.10:c.1134G>A MANE Select	ENSP00000262186.5:p.Leu378=
ENST00000330883.9:c.114G>A	ENSP00000328531.4:p.Leu38=
ENST00000262186.9:c.1134G>A	ENSP00000262186.5:p.Leu378=
ENST00000330883.8:c.114G>A	ENSP00000328531.4:p.Leu38=
ENST00000430723.4:c.786G>A	ENSP00000387657.4:p.Leu262=
ENST00000461280.1:n.421G>A
ENST00000473610.5:n.439G>A
ENST00000532957.5:n.1357G>A
NM_000238.3:c.1134G>A , LRG_288t1:c.1134G>A	NP_000229.1:p.Leu378=
NM_001204798.1:c.114G>A	NP_001191727.1:p.Leu38=
NM_172056.2:c.1134G>A , LRG_288t2:c.1134G>A	NP_742053.1:p.Leu378=
NM_172057.2:c.114G>A , LRG_288t3:c.114G>A	NP_742054.1:p.Leu38=
XM_011516185.1:c.834G>A	XP_011514487.1:p.Leu278=
XM_011516186.1:c.1134G>A	XP_011514488.1:p.Leu378=
XM_011516185.2:c.834G>A	XP_011514487.1:p.Leu278=
XM_011516186.3:c.1134G>A	XP_011514488.1:p.Leu378=
XM_017012195.1:c.984G>A	XP_016867684.1:p.Leu328=
XM_017012196.1:c.957G>A	XP_016867685.1:p.Leu319=
NM_000238.4:c.1134G>A MANE Select	NP_000229.1:p.Leu378=
NM_001204798.2:c.114G>A	NP_001191727.1:p.Leu38=
NM_172057.3:c.114G>A	NP_742054.1:p.Leu38=