Canonical Allele Identifier: CA169077360

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1172359
• ClinVar RCV Id: RCV001692435 ; RCV001873694 ; RCV001842152
• dbSNP Id: rs967889413
• gnomAD v4: 7-150952473-C-T
• MyVariant Identifiers: chr7:g.150649561C>T (hg19) ; chr7:g.150952473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952473C>T , CM000669.2:g.150952473C>T	GRCh38
NC_000007.13:g.150649561C>T , CM000669.1:g.150649561C>T	GRCh37
NC_000007.12:g.150280494C>T	NCBI36
NG_008916.1:g.30454G>A , LRG_288:g.30454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.807G>A
ENST00000684116.1:n.402G>A
ENST00000684241.1:n.2342G>A
ENST00000262186.10:c.1509G>A MANE Select	ENSP00000262186.5:p.Val503=
ENST00000330883.9:c.489G>A	ENSP00000328531.4:p.Val163=
ENST00000262186.9:c.1509G>A	ENSP00000262186.5:p.Val503=
ENST00000330883.8:c.489G>A	ENSP00000328531.4:p.Val163=
ENST00000430723.4:c.1161G>A	ENSP00000387657.4:p.Val387=
ENST00000461280.1:n.796G>A
ENST00000473610.5:n.814G>A
ENST00000532957.5:n.1732G>A
NM_000238.3:c.1509G>A , LRG_288t1:c.1509G>A	NP_000229.1:p.Val503=
NM_001204798.1:c.489G>A	NP_001191727.1:p.Val163=
NM_172056.2:c.1509G>A , LRG_288t2:c.1509G>A	NP_742053.1:p.Val503=
NM_172057.2:c.489G>A , LRG_288t3:c.489G>A	NP_742054.1:p.Val163=
XM_011516185.1:c.1209G>A	XP_011514487.1:p.Val403=
XM_011516186.1:c.1509G>A	XP_011514488.1:p.Val503=
XM_011516185.2:c.1209G>A	XP_011514487.1:p.Val403=
XM_011516186.3:c.1509G>A	XP_011514488.1:p.Val503=
XM_017012195.1:c.1359G>A	XP_016867684.1:p.Val453=
XM_017012196.1:c.1332G>A	XP_016867685.1:p.Val444=
NM_000238.4:c.1509G>A MANE Select	NP_000229.1:p.Val503=
NM_001204798.2:c.489G>A	NP_001191727.1:p.Val163=
NM_172057.3:c.489G>A	NP_742054.1:p.Val163=