Canonical Allele Identifier: CA029535

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773445
• ClinVar RCV Id: RCV003592270
• dbSNP Id: rs775838163
• ExAC: 7:150648651 C / T
• gnomAD v3: 7-150951563-C-T
• gnomAD v4: 7-150951563-C-T
• MyVariant Identifiers: chr7:g.150648651C>T (hg19) ; chr7:g.150951563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951563C>T , CM000669.2:g.150951563C>T	GRCh38
NC_000007.13:g.150648651C>T , CM000669.1:g.150648651C>T	GRCh37
NC_000007.12:g.150279584C>T	NCBI36
NG_008916.1:g.31364G>A , LRG_288:g.31364G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1128G>A
ENST00000684241.1:n.2663G>A
ENST00000262186.10:c.1830G>A MANE Select	ENSP00000262186.5:p.Lys610=
ENST00000330883.9:c.810G>A	ENSP00000328531.4:p.Lys270=
ENST00000262186.9:c.1830G>A	ENSP00000262186.5:p.Lys610=
ENST00000330883.8:c.810G>A	ENSP00000328531.4:p.Lys270=
ENST00000430723.4:c.1482G>A	ENSP00000387657.4:p.Lys494=
ENST00000461280.1:n.1117G>A
ENST00000473610.5:n.1135G>A
ENST00000532957.5:n.2053G>A
NM_000238.3:c.1830G>A , LRG_288t1:c.1830G>A	NP_000229.1:p.Lys610=
NM_001204798.1:c.810G>A	NP_001191727.1:p.Lys270=
NM_172056.2:c.1830G>A , LRG_288t2:c.1830G>A	NP_742053.1:p.Lys610=
NM_172057.2:c.810G>A , LRG_288t3:c.810G>A	NP_742054.1:p.Lys270=
XM_011516185.1:c.1530G>A	XP_011514487.1:p.Lys510=
XM_011516186.1:c.1830G>A	XP_011514488.1:p.Lys610=
XM_011516185.2:c.1530G>A	XP_011514487.1:p.Lys510=
XM_011516186.3:c.1830G>A	XP_011514488.1:p.Lys610=
XM_017012195.1:c.1680G>A	XP_016867684.1:p.Lys560=
XM_017012196.1:c.1653G>A	XP_016867685.1:p.Lys551=
NM_000238.4:c.1830G>A MANE Select	NP_000229.1:p.Lys610=
NM_001204798.2:c.810G>A	NP_001191727.1:p.Lys270=
NM_172057.3:c.810G>A	NP_742054.1:p.Lys270=