Canonical Allele Identifier: CA458871388

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2567297
• ClinVar RCV Id: RCV003311172
• dbSNP Id: rs1263217542
• gnomAD v4: 7-150950418-C-A
• MyVariant Identifiers: chr7:g.150647506C>A (hg19) ; chr7:g.150950418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950418C>A , CM000669.2:g.150950418C>A	GRCh38
NC_000007.13:g.150647506C>A , CM000669.1:g.150647506C>A	GRCh37
NC_000007.12:g.150278439C>A	NCBI36
NG_008916.1:g.32509G>T , LRG_288:g.32509G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1446G>T
ENST00000684241.1:n.2981G>T
ENST00000262186.10:c.2148G>T MANE Select	ENSP00000262186.5:p.Val716=
ENST00000330883.9:c.1128G>T	ENSP00000328531.4:p.Val376=
ENST00000262186.9:c.2148G>T	ENSP00000262186.5:p.Val716=
ENST00000330883.8:c.1128G>T	ENSP00000328531.4:p.Val376=
ENST00000430723.4:c.1800G>T	ENSP00000387657.4:p.Val600=
ENST00000461280.1:n.1435G>T
ENST00000473610.5:n.1780G>T
ENST00000532957.5:n.2371G>T
NM_000238.3:c.2148G>T , LRG_288t1:c.2148G>T	NP_000229.1:p.Val716=
NM_001204798.1:c.1128G>T	NP_001191727.1:p.Val376=
NM_172056.2:c.2148G>T , LRG_288t2:c.2148G>T	NP_742053.1:p.Val716=
NM_172057.2:c.1128G>T , LRG_288t3:c.1128G>T	NP_742054.1:p.Val376=
XM_011516185.1:c.1848G>T	XP_011514487.1:p.Val616=
XM_011516186.1:c.2148G>T	XP_011514488.1:p.Val716=
XM_011516185.2:c.1848G>T	XP_011514487.1:p.Val616=
XM_011516186.3:c.2148G>T	XP_011514488.1:p.Val716=
XM_017012195.1:c.1998G>T	XP_016867684.1:p.Val666=
XM_017012196.1:c.1971G>T	XP_016867685.1:p.Val657=
NM_000238.4:c.2148G>T MANE Select	NP_000229.1:p.Val716=
NM_001204798.2:c.1128G>T	NP_001191727.1:p.Val376=
NM_172057.3:c.1128G>T	NP_742054.1:p.Val376=