Canonical Allele Identifier: CA579075227

Gene: KCNH2

Linked Data

• dbSNP Id: rs1383660407
• gnomAD v2: 7-150648250-C-CCCCA
• gnomAD v3: 7-150951162-C-CCCCA
• gnomAD v4: 7-150951162-C-CCCCA
• MyVariant Identifiers: chr7:g.150648250_150648251insCCCA (hg19) ; chr7:g.150951162_150951163insCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951172_150951175dup , CM000669.2:g.150951172_150951175dup	GRCh38
NC_000007.13:g.150648260_150648263dup , CM000669.1:g.150648260_150648263dup	GRCh37
NC_000007.12:g.150279193_150279196dup	NCBI36
NG_008916.1:g.31761_31764dup , LRG_288:g.31761_31764dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1244-46_1244-43dup
ENST00000683359.1:n.70-46_70-43dup
ENST00000684241.1:n.2779-46_2779-43dup
ENST00000262186.10:c.1946-46_1946-43dup MANE Select	ENSP00000262186.5:n.1946-46_1946-43dup
ENST00000330883.9:c.926-46_926-43dup	ENSP00000328531.4:n.926-46_926-43dup
ENST00000262186.9:c.1946-46_1946-43dup	ENSP00000262186.5:n.1946-46_1946-43dup
ENST00000330883.8:c.926-46_926-43dup	ENSP00000328531.4:n.926-46_926-43dup
ENST00000430723.4:c.1598-46_1598-43dup	ENSP00000387657.4:n.1598-46_1598-43dup
ENST00000461280.1:n.1233-46_1233-43dup
ENST00000473610.5:n.1532_1535dup
ENST00000532957.5:n.2169-46_2169-43dup
NM_000238.3:c.1946-46_1946-43dup , LRG_288t1:c.1946-46_1946-43dup	NP_000229.1:n.1946-46_1946-43dup
NM_001204798.1:c.926-46_926-43dup	NP_001191727.1:n.926-46_926-43dup
NM_172056.2:c.1946-46_1946-43dup , LRG_288t2:c.1946-46_1946-43dup	NP_742053.1:n.1946-46_1946-43dup
NM_172057.2:c.926-46_926-43dup , LRG_288t3:c.926-46_926-43dup	NP_742054.1:n.926-46_926-43dup
XM_011516185.1:c.1646-46_1646-43dup	XP_011514487.1:n.1646-46_1646-43dup
XM_011516186.1:c.1946-46_1946-43dup	XP_011514488.1:n.1946-46_1946-43dup
XM_011516185.2:c.1646-46_1646-43dup	XP_011514487.1:n.1646-46_1646-43dup
XM_011516186.3:c.1946-46_1946-43dup	XP_011514488.1:n.1946-46_1946-43dup
XM_017012195.1:c.1796-46_1796-43dup	XP_016867684.1:n.1796-46_1796-43dup
XM_017012196.1:c.1769-46_1769-43dup	XP_016867685.1:n.1769-46_1769-43dup
NM_000238.4:c.1946-46_1946-43dup MANE Select	NP_000229.1:n.1946-46_1946-43dup
NM_001204798.2:c.926-46_926-43dup	NP_001191727.1:n.926-46_926-43dup
NM_172057.3:c.926-46_926-43dup	NP_742054.1:n.926-46_926-43dup