Canonical Allele Identifier: CA916080374

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 857501
• ClinVar RCV Id: RCV001063183
• dbSNP Id: rs794728468
• gnomAD v4: 7-150947376-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947380dup , CM000669.2:g.150947380dup	GRCh38
NC_000007.13:g.150644468dup , CM000669.1:g.150644468dup	GRCh37
NC_000007.12:g.150275401dup	NCBI36
NG_008916.1:g.35550dup , LRG_288:g.35550dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3936dup
ENST00000262186.10:c.3103dup MANE Select	ENSP00000262186.5:p.Arg1035ProfsTer?
ENST00000330883.9:c.2083dup	ENSP00000328531.4:p.Arg695ProfsTer?
ENST00000262186.9:c.3103dup	ENSP00000262186.5:p.Arg1035ProfsTer?
ENST00000330883.8:c.2083dup	ENSP00000328531.4:p.Arg695ProfsTer?
NM_000238.3:c.3103dup , LRG_288t1:c.3103dup	NP_000229.1:p.Arg1035ProfsTer?
NM_172057.2:c.2083dup , LRG_288t3:c.2083dup	NP_742054.1:p.Arg695ProfsTer?
XM_011516185.1:c.2803dup	XP_011514487.1:p.Arg935ProfsTer?
XM_011516185.2:c.2803dup	XP_011514487.1:p.Arg935ProfsTer?
XM_017012195.1:c.2953dup	XP_016867684.1:p.Arg985ProfsTer?
XM_017012196.1:c.2926dup	XP_016867685.1:p.Arg976ProfsTer?
NM_000238.4:c.3103dup MANE Select	NP_000229.1:p.Arg1035ProfsTer?
NM_172057.3:c.2083dup	NP_742054.1:p.Arg695ProfsTer?