Canonical Allele Identifier: CA169081241

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456941
• ClinVar RCV Id: RCV000534536 ; RCV002413448 ; RCV004553181
• dbSNP Id: rs887354896
• gnomAD v2: 7-150655286-G-A
• gnomAD v3: 7-150958198-G-A
• gnomAD v4: 7-150958198-G-A
• MyVariant Identifiers: chr7:g.150655286G>A (hg19) ; chr7:g.150958198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958198G>A , CM000669.2:g.150958198G>A	GRCh38
NC_000007.13:g.150655286G>A , CM000669.1:g.150655286G>A	GRCh37
NC_000007.12:g.150286219G>A	NCBI36
NG_008916.1:g.24729C>T , LRG_288:g.24729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1610C>T
ENST00000262186.10:c.777C>T MANE Select	ENSP00000262186.5:p.Asp259=
ENST00000262186.9:c.777C>T	ENSP00000262186.5:p.Asp259=
ENST00000430723.4:c.429C>T	ENSP00000387657.4:p.Asp143=
ENST00000532957.5:n.1000C>T
NM_000238.3:c.777C>T , LRG_288t1:c.777C>T	NP_000229.1:p.Asp259=
NM_172056.2:c.777C>T , LRG_288t2:c.777C>T	NP_742053.1:p.Asp259=
XM_011516185.1:c.477C>T	XP_011514487.1:p.Asp159=
XM_011516186.1:c.777C>T	XP_011514488.1:p.Asp259=
XM_011516185.2:c.477C>T	XP_011514487.1:p.Asp159=
XM_011516186.3:c.777C>T	XP_011514488.1:p.Asp259=
XM_017012195.1:c.627C>T	XP_016867684.1:p.Asp209=
XM_017012196.1:c.600C>T	XP_016867685.1:p.Asp200=
NM_000238.4:c.777C>T MANE Select	NP_000229.1:p.Asp259=