Canonical Allele Identifier: CA658797042

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 503674
• ClinVar RCV Id: RCV000599355
• dbSNP Id: rs1554425146
• MyVariant Identifiers: chr7:g.150647248_150647255del (hg19) ; chr7:g.150950160_150950167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950162_150950169del , CM000669.2:g.150950162_150950169del	GRCh38
NC_000007.13:g.150647250_150647257del , CM000669.1:g.150647250_150647257del	GRCh37
NC_000007.12:g.150278183_150278190del	NCBI36
NG_008916.1:g.32760_32767del , LRG_288:g.32760_32767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1697_1704del
ENST00000684241.1:n.3231+1_3231+8del
ENST00000262186.10:c.2398+1_2398+8del
ENST00000330883.9:c.1378+1_1378+8del
ENST00000262186.9:c.2398+1_2398+8del
ENST00000330883.8:c.1378+1_1378+8del
ENST00000430723.4:c.2051_2058del	ENSP00000387657.4:p.Gly684ValfsTer?
ENST00000461280.1:n.1686_1693del
ENST00000473610.5:n.2031_2038del
ENST00000532957.5:n.2622_2629del
NM_000238.3:c.2398+1_2398+8del , LRG_288t1:c.2398+1_2398+8del
NM_001204798.1:c.1379_1386del	NP_001191727.1:p.Gly460ValfsTer?
NM_172056.2:c.2399_2406del , LRG_288t2:c.2399_2406del	NP_742053.1:p.Gly800ValfsTer?
NM_172057.2:c.1378+1_1378+8del , LRG_288t3:c.1378+1_1378+8del
XM_011516185.1:c.2098+1_2098+8del
XM_011516186.1:c.2398+1_2398+8del
XM_011516185.2:c.2098+1_2098+8del
XM_011516186.3:c.2398+1_2398+8del
XM_017012195.1:c.2248+1_2248+8del
XM_017012196.1:c.2221+1_2221+8del
NM_000238.4:c.2398+1_2398+8del
NM_001204798.2:c.1379_1386del	NP_001191727.1:p.Gly460ValfsTer?
NM_172057.3:c.1378+1_1378+8del