Canonical Allele Identifier: CA579075431

Gene: KCNH2

Linked Data

• dbSNP Id: rs1447609670
• gnomAD v2: 7-150647011-CTGTT-C
• gnomAD v4: 7-150949923-CTGTT-C
• MyVariant Identifiers: chr7:g.150647012_150647015del (hg19) ; chr7:g.150949924_150949927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949927_150949930del , CM000669.2:g.150949927_150949930del	GRCh38
NC_000007.13:g.150647015_150647018del , CM000669.1:g.150647015_150647018del	GRCh37
NC_000007.12:g.150277948_150277951del	NCBI36
NG_008916.1:g.33000_33003del , LRG_288:g.33000_33003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1937_1940del
ENST00000684241.1:n.3231+241_3231+244del
ENST00000262186.10:c.2398+241_2398+244del MANE Select	ENSP00000262186.5:n.2398+241_2398+244del
ENST00000330883.9:c.1378+241_1378+244del	ENSP00000328531.4:n.1378+241_1378+244del
ENST00000262186.9:c.2398+241_2398+244del	ENSP00000262186.5:n.2398+241_2398+244del
ENST00000330883.8:c.1378+241_1378+244del	ENSP00000328531.4:n.1378+241_1378+244del
ENST00000430723.4:c.2291_2294del	ENSP00000387657.4:p.Lys764ArgfsTer7
ENST00000461280.1:n.1926_1929del
ENST00000473610.5:n.2271_2274del
ENST00000532957.5:n.2862_2865del
NM_000238.3:c.2398+241_2398+244del , LRG_288t1:c.2398+241_2398+244del	NP_000229.1:n.2398+241_2398+244del
NM_001204798.1:c.1619_1622del	NP_001191727.1:p.Lys540ArgfsTer7
NM_172056.2:c.2639_2642del , LRG_288t2:c.2639_2642del	NP_742053.1:p.Lys880ArgfsTer7
NM_172057.2:c.1378+241_1378+244del , LRG_288t3:c.1378+241_1378+244del	NP_742054.1:n.1378+241_1378+244del
XM_011516185.1:c.2098+241_2098+244del	XP_011514487.1:n.2098+241_2098+244del
XM_011516186.1:c.2398+241_2398+244del	XP_011514488.1:n.2398+241_2398+244del
XM_011516185.2:c.2098+241_2098+244del	XP_011514487.1:n.2098+241_2098+244del
XM_011516186.3:c.2398+241_2398+244del	XP_011514488.1:n.2398+241_2398+244del
XM_017012195.1:c.2248+241_2248+244del	XP_016867684.1:n.2248+241_2248+244del
XM_017012196.1:c.2221+241_2221+244del	XP_016867685.1:n.2221+241_2221+244del
NM_000238.4:c.2398+241_2398+244del MANE Select	NP_000229.1:n.2398+241_2398+244del
NM_001204798.2:c.1619_1622del	NP_001191727.1:p.Lys540ArgfsTer7
NM_172057.3:c.1378+241_1378+244del	NP_742054.1:n.1378+241_1378+244del