Canonical Allele Identifier: CA458646811

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2158994
• ClinVar RCV Id: RCV003093675
• gnomAD v4: 7-150958429-C-A
• MyVariant Identifiers: chr7:g.150655517C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958429C>A , CM000669.2:g.150958429C>A	GRCh38
NC_000007.13:g.150655517C>A , CM000669.1:g.150655517C>A	GRCh37
NC_000007.12:g.150286450C>A	NCBI36
NG_008916.1:g.24498G>T , LRG_288:g.24498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1379G>T
ENST00000262186.10:c.546G>T MANE Select	ENSP00000262186.5:p.Ser182=
ENST00000262186.9:c.546G>T	ENSP00000262186.5:p.Ser182=
ENST00000430723.4:c.235-37G>T	ENSP00000387657.4:n.235-37G>T
ENST00000532957.5:n.769G>T
NM_000238.3:c.546G>T , LRG_288t1:c.546G>T	NP_000229.1:p.Ser182=
NM_172056.2:c.546G>T , LRG_288t2:c.546G>T	NP_742053.1:p.Ser182=
XM_011516185.1:c.246G>T	XP_011514487.1:p.Ser82=
XM_011516186.1:c.546G>T	XP_011514488.1:p.Ser182=
XM_011516185.2:c.246G>T	XP_011514487.1:p.Ser82=
XM_011516186.3:c.546G>T	XP_011514488.1:p.Ser182=
XM_017012195.1:c.396G>T	XP_016867684.1:p.Ser132=
XM_017012196.1:c.369G>T	XP_016867685.1:p.Ser123=
NM_000238.4:c.546G>T MANE Select	NP_000229.1:p.Ser182=