Canonical Allele Identifier: CA004616

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200636
• ClinVar RCV Id: RCV000181975
• dbSNP Id: rs794728437
• MyVariant Identifiers: chr7:g.150649645_150649647del (hg19) ; chr7:g.150952557_150952559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952558_150952560del , CM000669.2:g.150952558_150952560del	GRCh38
NC_000007.13:g.150649646_150649648del , CM000669.1:g.150649646_150649648del	GRCh37
NC_000007.12:g.150280579_150280581del	NCBI36
NG_008916.1:g.30368_30370del , LRG_288:g.30368_30370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.721_723del
ENST00000684116.1:n.316_318del
ENST00000684241.1:n.2256_2258del
ENST00000262186.10:c.1423_1425del MANE Select	ENSP00000262186.5:p.Tyr475del
ENST00000330883.9:c.403_405del	ENSP00000328531.4:p.Tyr135del
ENST00000262186.9:c.1423_1425del	ENSP00000262186.5:p.Tyr475del
ENST00000330883.8:c.403_405del	ENSP00000328531.4:p.Tyr135del
ENST00000430723.4:c.1075_1077del	ENSP00000387657.4:p.Tyr359del
ENST00000461280.1:n.710_712del
ENST00000473610.5:n.728_730del
ENST00000532957.5:n.1646_1648del
NM_000238.3:c.1423_1425del , LRG_288t1:c.1423_1425del	NP_000229.1:p.Tyr475del
NM_001204798.1:c.403_405del	NP_001191727.1:p.Tyr135del
NM_172056.2:c.1423_1425del , LRG_288t2:c.1423_1425del	NP_742053.1:p.Tyr475del
NM_172057.2:c.403_405del , LRG_288t3:c.403_405del	NP_742054.1:p.Tyr135del
XM_011516185.1:c.1123_1125del	XP_011514487.1:p.Tyr375del
XM_011516186.1:c.1423_1425del	XP_011514488.1:p.Tyr475del
XM_011516185.2:c.1123_1125del	XP_011514487.1:p.Tyr375del
XM_011516186.3:c.1423_1425del	XP_011514488.1:p.Tyr475del
XM_017012195.1:c.1273_1275del	XP_016867684.1:p.Tyr425del
XM_017012196.1:c.1246_1248del	XP_016867685.1:p.Tyr416del
NM_000238.4:c.1423_1425del MANE Select	NP_000229.1:p.Tyr475del
NM_001204798.2:c.403_405del	NP_001191727.1:p.Tyr135del
NM_172057.3:c.403_405del	NP_742054.1:p.Tyr135del