Canonical Allele Identifier: CA027531

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 923066
• ClinVar RCV Id: RCV001227683 ; RCV001707864 ; RCV001843164 ; RCV002379709
• dbSNP Id: rs371864051
• ExAC: 7:150649786 C / T
• gnomAD v2: 7-150649786-C-T
• gnomAD v3: 7-150952698-C-T
• gnomAD v4: 7-150952698-C-T
• COSMIC: COSM275640
• MyVariant Identifiers: chr7:g.150649786C>T (hg19) ; chr7:g.150952698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952698C>T , CM000669.2:g.150952698C>T	GRCh38
NC_000007.13:g.150649786C>T , CM000669.1:g.150649786C>T	GRCh37
NC_000007.12:g.150280719C>T	NCBI36
NG_008916.1:g.30229G>A , LRG_288:g.30229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.582G>A
ENST00000684116.1:n.177G>A
ENST00000684241.1:n.2117G>A
ENST00000262186.10:c.1284G>A MANE Select	ENSP00000262186.5:p.Ser428=
ENST00000330883.9:c.264G>A	ENSP00000328531.4:p.Ser88=
ENST00000262186.9:c.1284G>A	ENSP00000262186.5:p.Ser428=
ENST00000330883.8:c.264G>A	ENSP00000328531.4:p.Ser88=
ENST00000430723.4:c.936G>A	ENSP00000387657.4:p.Ser312=
ENST00000461280.1:n.571G>A
ENST00000473610.5:n.589G>A
ENST00000532957.5:n.1507G>A
NM_000238.3:c.1284G>A , LRG_288t1:c.1284G>A	NP_000229.1:p.Ser428=
NM_001204798.1:c.264G>A	NP_001191727.1:p.Ser88=
NM_172056.2:c.1284G>A , LRG_288t2:c.1284G>A	NP_742053.1:p.Ser428=
NM_172057.2:c.264G>A , LRG_288t3:c.264G>A	NP_742054.1:p.Ser88=
XM_011516185.1:c.984G>A	XP_011514487.1:p.Ser328=
XM_011516186.1:c.1284G>A	XP_011514488.1:p.Ser428=
XM_011516185.2:c.984G>A	XP_011514487.1:p.Ser328=
XM_011516186.3:c.1284G>A	XP_011514488.1:p.Ser428=
XM_017012195.1:c.1134G>A	XP_016867684.1:p.Ser378=
XM_017012196.1:c.1107G>A	XP_016867685.1:p.Ser369=
NM_000238.4:c.1284G>A MANE Select	NP_000229.1:p.Ser428=
NM_001204798.2:c.264G>A	NP_001191727.1:p.Ser88=
NM_172057.3:c.264G>A	NP_742054.1:p.Ser88=