Canonical Allele Identifier: CA645372848

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 430730
• ClinVar RCV Id: RCV000495854 ; RCV001856987
• dbSNP Id: rs1131692183
• MyVariant Identifiers: chr7:g.150645545_150645549dup (hg19) ; chr7:g.150645544_150645545insCCTGC (hg19) ; chr7:g.150948457_150948461dup (hg38) ; chr7:g.150948456_150948457insCCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948457_150948461dup , CM000669.2:g.150948457_150948461dup	GRCh38
NC_000007.13:g.150645545_150645549dup , CM000669.1:g.150645545_150645549dup	GRCh37
NC_000007.12:g.150276478_150276482dup	NCBI36
NG_008916.1:g.34466_34470dup , LRG_288:g.34466_34470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3508_3512dup
ENST00000262186.10:c.2675_2679dup MANE Select	ENSP00000262186.5:p.Arg894AlafsTer?
ENST00000330883.9:c.1655_1659dup	ENSP00000328531.4:p.Arg554AlafsTer?
ENST00000262186.9:c.2675_2679dup	ENSP00000262186.5:p.Arg894AlafsTer?
ENST00000330883.8:c.1655_1659dup	ENSP00000328531.4:p.Arg554AlafsTer?
NM_000238.3:c.2675_2679dup , LRG_288t1:c.2675_2679dup	NP_000229.1:p.Arg894AlafsTer?
NM_172057.2:c.1655_1659dup , LRG_288t3:c.1655_1659dup	NP_742054.1:p.Arg554AlafsTer?
XM_011516185.1:c.2375_2379dup	XP_011514487.1:p.Arg794AlafsTer?
XM_011516186.1:c.2675_2679dup	XP_011514488.1:p.Arg894AlafsTer?
XM_011516185.2:c.2375_2379dup	XP_011514487.1:p.Arg794AlafsTer?
XM_011516186.3:c.2675_2679dup	XP_011514488.1:p.Arg894AlafsTer?
XM_017012195.1:c.2525_2529dup	XP_016867684.1:p.Arg844AlafsTer?
XM_017012196.1:c.2498_2502dup	XP_016867685.1:p.Arg835AlafsTer?
NM_000238.4:c.2675_2679dup MANE Select	NP_000229.1:p.Arg894AlafsTer?
NM_172057.3:c.1655_1659dup	NP_742054.1:p.Arg554AlafsTer?