Canonical Allele Identifier: CA458872089

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2085221
• ClinVar RCV Id: RCV002996162
• gnomAD v4: 7-150958225-C-T
• MyVariant Identifiers: chr7:g.150655313C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958225C>T , CM000669.2:g.150958225C>T	GRCh38
NC_000007.13:g.150655313C>T , CM000669.1:g.150655313C>T	GRCh37
NC_000007.12:g.150286246C>T	NCBI36
NG_008916.1:g.24702G>A , LRG_288:g.24702G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1583G>A
ENST00000262186.10:c.750G>A MANE Select	ENSP00000262186.5:p.Ser250=
ENST00000262186.9:c.750G>A	ENSP00000262186.5:p.Ser250=
ENST00000430723.4:c.402G>A	ENSP00000387657.4:p.Ser134=
ENST00000532957.5:n.973G>A
NM_000238.3:c.750G>A , LRG_288t1:c.750G>A	NP_000229.1:p.Ser250=
NM_172056.2:c.750G>A , LRG_288t2:c.750G>A	NP_742053.1:p.Ser250=
XM_011516185.1:c.450G>A	XP_011514487.1:p.Ser150=
XM_011516186.1:c.750G>A	XP_011514488.1:p.Ser250=
XM_011516185.2:c.450G>A	XP_011514487.1:p.Ser150=
XM_011516186.3:c.750G>A	XP_011514488.1:p.Ser250=
XM_017012195.1:c.600G>A	XP_016867684.1:p.Ser200=
XM_017012196.1:c.573G>A	XP_016867685.1:p.Ser191=
NM_000238.4:c.750G>A MANE Select	NP_000229.1:p.Ser250=