Canonical Allele Identifier: CA458645945

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2825066
• ClinVar RCV Id: RCV003648287
• MyVariant Identifiers: chr7:g.150654418T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957330T>A , CM000669.2:g.150957330T>A	GRCh38
NC_000007.13:g.150654418T>A , CM000669.1:g.150654418T>A	GRCh37
NC_000007.12:g.150285351T>A	NCBI36
NG_008916.1:g.25597A>T , LRG_288:g.25597A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1922A>T
ENST00000262186.10:c.1089A>T MANE Select	ENSP00000262186.5:p.Ile363=
ENST00000262186.9:c.1089A>T	ENSP00000262186.5:p.Ile363=
ENST00000430723.4:c.741A>T	ENSP00000387657.4:p.Ile247=
ENST00000532957.5:n.1312A>T
NM_000238.3:c.1089A>T , LRG_288t1:c.1089A>T	NP_000229.1:p.Ile363=
NM_172056.2:c.1089A>T , LRG_288t2:c.1089A>T	NP_742053.1:p.Ile363=
XM_011516185.1:c.789A>T	XP_011514487.1:p.Ile263=
XM_011516186.1:c.1089A>T	XP_011514488.1:p.Ile363=
XM_011516185.2:c.789A>T	XP_011514487.1:p.Ile263=
XM_011516186.3:c.1089A>T	XP_011514488.1:p.Ile363=
XM_017012195.1:c.939A>T	XP_016867684.1:p.Ile313=
XM_017012196.1:c.912A>T	XP_016867685.1:p.Ile304=
NM_000238.4:c.1089A>T MANE Select	NP_000229.1:p.Ile363=