Canonical Allele Identifier: CA458645989

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3069772
• ClinVar RCV Id: RCV004009804
• gnomAD v4: 7-150957372-C-T
• MyVariant Identifiers: chr7:g.150654460C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957372C>T , CM000669.2:g.150957372C>T	GRCh38
NC_000007.13:g.150654460C>T , CM000669.1:g.150654460C>T	GRCh37
NC_000007.12:g.150285393C>T	NCBI36
NG_008916.1:g.25555G>A , LRG_288:g.25555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1880G>A
ENST00000262186.10:c.1047G>A MANE Select	ENSP00000262186.5:p.Leu349=
ENST00000262186.9:c.1047G>A	ENSP00000262186.5:p.Leu349=
ENST00000430723.4:c.699G>A	ENSP00000387657.4:p.Leu233=
ENST00000532957.5:n.1270G>A
NM_000238.3:c.1047G>A , LRG_288t1:c.1047G>A	NP_000229.1:p.Leu349=
NM_172056.2:c.1047G>A , LRG_288t2:c.1047G>A	NP_742053.1:p.Leu349=
XM_011516185.1:c.747G>A	XP_011514487.1:p.Leu249=
XM_011516186.1:c.1047G>A	XP_011514488.1:p.Leu349=
XM_011516185.2:c.747G>A	XP_011514487.1:p.Leu249=
XM_011516186.3:c.1047G>A	XP_011514488.1:p.Leu349=
XM_017012195.1:c.897G>A	XP_016867684.1:p.Leu299=
XM_017012196.1:c.870G>A	XP_016867685.1:p.Leu290=
NM_000238.4:c.1047G>A MANE Select	NP_000229.1:p.Leu349=