Canonical Allele Identifier: CA027389

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456884
• ClinVar RCV Id: RCV001841426 ; RCV002272279 ; RCV002497063
• dbSNP Id: rs539146547
• ExAC: 7:150649845 C / T
• gnomAD v2: 7-150649845-C-T
• gnomAD v3: 7-150952757-C-T
• gnomAD v4: 7-150952757-C-T
• MyVariant Identifiers: chr7:g.150649845C>T (hg19) ; chr7:g.150952757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952757C>T , CM000669.2:g.150952757C>T	GRCh38
NC_000007.13:g.150649845C>T , CM000669.1:g.150649845C>T	GRCh37
NC_000007.12:g.150280778C>T	NCBI36
NG_008916.1:g.30170G>A , LRG_288:g.30170G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.523G>A
ENST00000684116.1:n.118G>A
ENST00000684241.1:n.2058G>A
ENST00000262186.10:c.1225G>A MANE Select	ENSP00000262186.5:p.Val409Met
ENST00000330883.9:c.205G>A	ENSP00000328531.4:p.Val69Met
ENST00000262186.9:c.1225G>A	ENSP00000262186.5:p.Val409Met
ENST00000330883.8:c.205G>A	ENSP00000328531.4:p.Val69Met
ENST00000430723.4:c.877G>A	ENSP00000387657.4:p.Val293Met
ENST00000461280.1:n.512G>A
ENST00000473610.5:n.530G>A
ENST00000532957.5:n.1448G>A
NM_000238.3:c.1225G>A , LRG_288t1:c.1225G>A	NP_000229.1:p.Val409Met
NM_001204798.1:c.205G>A	NP_001191727.1:p.Val69Met
NM_172056.2:c.1225G>A , LRG_288t2:c.1225G>A	NP_742053.1:p.Val409Met
NM_172057.2:c.205G>A , LRG_288t3:c.205G>A	NP_742054.1:p.Val69Met
XM_011516185.1:c.925G>A	XP_011514487.1:p.Val309Met
XM_011516186.1:c.1225G>A	XP_011514488.1:p.Val409Met
XM_011516185.2:c.925G>A	XP_011514487.1:p.Val309Met
XM_011516186.3:c.1225G>A	XP_011514488.1:p.Val409Met
XM_017012195.1:c.1075G>A	XP_016867684.1:p.Val359Met
XM_017012196.1:c.1048G>A	XP_016867685.1:p.Val350Met
NM_000238.4:c.1225G>A MANE Select	NP_000229.1:p.Val409Met
NM_001204798.2:c.205G>A	NP_001191727.1:p.Val69Met
NM_172057.3:c.205G>A	NP_742054.1:p.Val69Met