Canonical Allele Identifier: CA1139660309

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 936138
• ClinVar RCV Id: RCV001204876
• dbSNP Id: rs1801137678

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951122_150951128del , CM000669.2:g.150951122_150951128del	GRCh38
NC_000007.13:g.150648210_150648216del , CM000669.1:g.150648210_150648216del	GRCh37
NC_000007.12:g.150279143_150279149del	NCBI36
NG_008916.1:g.31803_31809del , LRG_288:g.31803_31809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1244-4_1246del
ENST00000683359.1:n.70-4_72del
ENST00000684241.1:n.2779-4_2781del
ENST00000262186.10:c.1946-4_1948del
ENST00000330883.9:c.926-4_928del
ENST00000262186.9:c.1946-4_1948del
ENST00000330883.8:c.926-4_928del
ENST00000430723.4:c.1598-4_1600del
ENST00000461280.1:n.1233-4_1235del
ENST00000473610.5:n.1574_1580del
ENST00000532957.5:n.2169-4_2171del
NM_000238.3:c.1946-4_1948del , LRG_288t1:c.1946-4_1948del
NM_001204798.1:c.926-4_928del
NM_172056.2:c.1946-4_1948del , LRG_288t2:c.1946-4_1948del
NM_172057.2:c.926-4_928del , LRG_288t3:c.926-4_928del
XM_011516185.1:c.1646-4_1648del
XM_011516186.1:c.1946-4_1948del
XM_011516185.2:c.1646-4_1648del
XM_011516186.3:c.1946-4_1948del
XM_017012195.1:c.1796-4_1798del
XM_017012196.1:c.1769-4_1771del
NM_000238.4:c.1946-4_1948del
NM_001204798.2:c.926-4_928del
NM_172057.3:c.926-4_928del