Canonical Allele Identifier: CA033618

Gene: KCNH2

Linked Data

• dbSNP Id: rs766474899
• ExAC: 7:150645564 CGCTTGCGTT / C
• gnomAD v2: 7-150645564-CGCTTGCGTT-C
• gnomAD v4: 7-150948476-CGCTTGCGTT-C
• MyVariant Identifiers: chr7:g.150645565_150645573del (hg19) ; chr7:g.150948477_150948485del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948479_150948487del , CM000669.2:g.150948479_150948487del	GRCh38
NC_000007.13:g.150645567_150645575del , CM000669.1:g.150645567_150645575del	GRCh37
NC_000007.12:g.150276500_150276508del	NCBI36
NG_008916.1:g.34442_34450del , LRG_288:g.34442_34450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3484_3492del
ENST00000262186.10:c.2651_2659del MANE Select	ENSP00000262186.5:p.Gln884_Lys886del
ENST00000330883.9:c.1631_1639del	ENSP00000328531.4:p.Gln544_Lys546del
ENST00000262186.9:c.2651_2659del	ENSP00000262186.5:p.Gln884_Lys886del
ENST00000330883.8:c.1631_1639del	ENSP00000328531.4:p.Gln544_Lys546del
NM_000238.3:c.2651_2659del , LRG_288t1:c.2651_2659del	NP_000229.1:p.Gln884_Lys886del
NM_172057.2:c.1631_1639del , LRG_288t3:c.1631_1639del	NP_742054.1:p.Gln544_Lys546del
XM_011516185.1:c.2351_2359del	XP_011514487.1:p.Gln784_Lys786del
XM_011516186.1:c.2651_2659del	XP_011514488.1:p.Gln884_Lys886del
XM_011516185.2:c.2351_2359del	XP_011514487.1:p.Gln784_Lys786del
XM_011516186.3:c.2651_2659del	XP_011514488.1:p.Gln884_Lys886del
XM_017012195.1:c.2501_2509del	XP_016867684.1:p.Gln834_Lys836del
XM_017012196.1:c.2474_2482del	XP_016867685.1:p.Gln825_Lys827del
NM_000238.4:c.2651_2659del MANE Select	NP_000229.1:p.Gln884_Lys886del
NM_172057.3:c.1631_1639del	NP_742054.1:p.Gln544_Lys546del