Canonical Allele Identifier: CA369860988

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 925674
• ClinVar RCV Id: RCV001841010
• dbSNP Id: rs553291120
• gnomAD v3: 7-150955488-C-A
• gnomAD v4: 7-150955488-C-A
• MyVariant Identifiers: chr7:g.150652576C>A (hg19) ; chr7:g.150955488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955488C>A , CM000669.2:g.150955488C>A	GRCh38
NC_000007.13:g.150652576C>A , CM000669.1:g.150652576C>A	GRCh37
NC_000007.12:g.150283509C>A	NCBI36
NG_008916.1:g.27439G>T , LRG_288:g.27439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.334G>T
ENST00000684241.1:n.1961+1803G>T
ENST00000262186.10:c.1128+1803G>T MANE Select	ENSP00000262186.5:n.1128+1803G>T
ENST00000330883.9:c.16G>T	ENSP00000328531.4:p.Gly6Trp
ENST00000262186.9:c.1128+1803G>T	ENSP00000262186.5:n.1128+1803G>T
ENST00000330883.8:c.16G>T	ENSP00000328531.4:p.Gly6Trp
ENST00000430723.4:c.780+1803G>T	ENSP00000387657.4:n.780+1803G>T
ENST00000461280.1:n.323G>T
ENST00000473610.5:n.341G>T
ENST00000532957.5:n.1351+1803G>T
NM_000238.3:c.1128+1803G>T , LRG_288t1:c.1128+1803G>T	NP_000229.1:n.1128+1803G>T
NM_001204798.1:c.16G>T	NP_001191727.1:p.Gly6Trp
NM_172056.2:c.1128+1803G>T , LRG_288t2:c.1128+1803G>T	NP_742053.1:n.1128+1803G>T
NM_172057.2:c.16G>T , LRG_288t3:c.16G>T	NP_742054.1:p.Gly6Trp
XM_011516185.1:c.828+1803G>T	XP_011514487.1:n.828+1803G>T
XM_011516186.1:c.1128+1803G>T	XP_011514488.1:n.1128+1803G>T
XM_011516185.2:c.828+1803G>T	XP_011514487.1:n.828+1803G>T
XM_011516186.3:c.1128+1803G>T	XP_011514488.1:n.1128+1803G>T
XM_017012195.1:c.978+1803G>T	XP_016867684.1:n.978+1803G>T
XM_017012196.1:c.951+1803G>T	XP_016867685.1:n.951+1803G>T
NM_000238.4:c.1128+1803G>T MANE Select	NP_000229.1:n.1128+1803G>T
NM_001204798.2:c.16G>T	NP_001191727.1:p.Gly6Trp
NM_172057.3:c.16G>T	NP_742054.1:p.Gly6Trp