Canonical Allele Identifier: CA458645597

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2049636
• ClinVar RCV Id: RCV002914118
• MyVariant Identifiers: chr7:g.150648831C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951743C>A , CM000669.2:g.150951743C>A	GRCh38
NC_000007.13:g.150648831C>A , CM000669.1:g.150648831C>A	GRCh37
NC_000007.12:g.150279764C>A	NCBI36
NG_008916.1:g.31184G>T , LRG_288:g.31184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.948G>T
ENST00000684116.1:n.543G>T
ENST00000684241.1:n.2483G>T
ENST00000262186.10:c.1650G>T MANE Select	ENSP00000262186.5:p.Leu550=
ENST00000330883.9:c.630G>T	ENSP00000328531.4:p.Leu210=
ENST00000262186.9:c.1650G>T	ENSP00000262186.5:p.Leu550=
ENST00000330883.8:c.630G>T	ENSP00000328531.4:p.Leu210=
ENST00000430723.4:c.1302G>T	ENSP00000387657.4:p.Leu434=
ENST00000461280.1:n.937G>T
ENST00000473610.5:n.955G>T
ENST00000532957.5:n.1873G>T
NM_000238.3:c.1650G>T , LRG_288t1:c.1650G>T	NP_000229.1:p.Leu550=
NM_001204798.1:c.630G>T	NP_001191727.1:p.Leu210=
NM_172056.2:c.1650G>T , LRG_288t2:c.1650G>T	NP_742053.1:p.Leu550=
NM_172057.2:c.630G>T , LRG_288t3:c.630G>T	NP_742054.1:p.Leu210=
XM_011516185.1:c.1350G>T	XP_011514487.1:p.Leu450=
XM_011516186.1:c.1650G>T	XP_011514488.1:p.Leu550=
XM_011516185.2:c.1350G>T	XP_011514487.1:p.Leu450=
XM_011516186.3:c.1650G>T	XP_011514488.1:p.Leu550=
XM_017012195.1:c.1500G>T	XP_016867684.1:p.Leu500=
XM_017012196.1:c.1473G>T	XP_016867685.1:p.Leu491=
NM_000238.4:c.1650G>T MANE Select	NP_000229.1:p.Leu550=
NM_001204798.2:c.630G>T	NP_001191727.1:p.Leu210=
NM_172057.3:c.630G>T	NP_742054.1:p.Leu210=