Canonical Allele Identifier: CA1108707623

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801345501
• gnomAD v3: 7-150955647-CCAGGGTGGTTGTGG-C
• gnomAD v4: 7-150955647-CCAGGGTGGTTGTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955649_150955662del , CM000669.2:g.150955649_150955662del	GRCh38
NC_000007.13:g.150652737_150652750del , CM000669.1:g.150652737_150652750del	GRCh37
NC_000007.12:g.150283670_150283683del	NCBI36
NG_008916.1:g.27266_27279del , LRG_288:g.27266_27279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.161_174del
ENST00000684241.1:n.1961+1630_1961+1643del
ENST00000262186.10:c.1128+1630_1128+1643del MANE Select	ENSP00000262186.5:n.1128+1630_1128+1643del
ENST00000330883.9:c.-158_-145del	ENSP00000328531.4:n.-158_-145del
ENST00000262186.9:c.1128+1630_1128+1643del	ENSP00000262186.5:n.1128+1630_1128+1643del
ENST00000330883.8:c.-158_-145del	ENSP00000328531.4:n.-158_-145del
ENST00000430723.4:c.780+1630_780+1643del	ENSP00000387657.4:n.780+1630_780+1643del
ENST00000461280.1:n.150_163del
ENST00000473610.5:n.168_181del
ENST00000532957.5:n.1351+1630_1351+1643del
NM_000238.3:c.1128+1630_1128+1643del , LRG_288t1:c.1128+1630_1128+1643del	NP_000229.1:n.1128+1630_1128+1643del
NM_001204798.1:c.-158_-145del	NP_001191727.1:n.-158_-145del
NM_172056.2:c.1128+1630_1128+1643del , LRG_288t2:c.1128+1630_1128+1643del	NP_742053.1:n.1128+1630_1128+1643del
NM_172057.2:c.-158_-145del , LRG_288t3:c.-158_-145del	NP_742054.1:n.-158_-145del
XM_011516185.1:c.828+1630_828+1643del	XP_011514487.1:n.828+1630_828+1643del
XM_011516186.1:c.1128+1630_1128+1643del	XP_011514488.1:n.1128+1630_1128+1643del
XM_011516185.2:c.828+1630_828+1643del	XP_011514487.1:n.828+1630_828+1643del
XM_011516186.3:c.1128+1630_1128+1643del	XP_011514488.1:n.1128+1630_1128+1643del
XM_017012195.1:c.978+1630_978+1643del	XP_016867684.1:n.978+1630_978+1643del
XM_017012196.1:c.951+1630_951+1643del	XP_016867685.1:n.951+1630_951+1643del
NM_000238.4:c.1128+1630_1128+1643del MANE Select	NP_000229.1:n.1128+1630_1128+1643del
NM_001204798.2:c.-158_-145del	NP_001191727.1:n.-158_-145del
NM_172057.3:c.-158_-145del	NP_742054.1:n.-158_-145del