Canonical Allele Identifier: CA658797038

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 526908
• ClinVar RCV Id: RCV000631554
• dbSNP Id: rs1554424671
• MyVariant Identifiers: chr7:g.150645567dup (hg19) ; chr7:g.150948479dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948480dup , CM000669.2:g.150948480dup	GRCh38
NC_000007.13:g.150645568dup , CM000669.1:g.150645568dup	GRCh37
NC_000007.12:g.150276501dup	NCBI36
NG_008916.1:g.34448dup , LRG_288:g.34448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3490dup
ENST00000262186.10:c.2657dup MANE Select	ENSP00000262186.5:p.Arg887AlafsTer?
ENST00000330883.9:c.1637dup	ENSP00000328531.4:p.Arg547AlafsTer?
ENST00000262186.9:c.2657dup	ENSP00000262186.5:p.Arg887AlafsTer?
ENST00000330883.8:c.1637dup	ENSP00000328531.4:p.Arg547AlafsTer?
NM_000238.3:c.2657dup , LRG_288t1:c.2657dup	NP_000229.1:p.Arg887AlafsTer?
NM_172057.2:c.1637dup , LRG_288t3:c.1637dup	NP_742054.1:p.Arg547AlafsTer?
XM_011516185.1:c.2357dup	XP_011514487.1:p.Arg787AlafsTer?
XM_011516186.1:c.2657dup	XP_011514488.1:p.Arg887AlafsTer?
XM_011516185.2:c.2357dup	XP_011514487.1:p.Arg787AlafsTer?
XM_011516186.3:c.2657dup	XP_011514488.1:p.Arg887AlafsTer?
XM_017012195.1:c.2507dup	XP_016867684.1:p.Arg837AlafsTer?
XM_017012196.1:c.2480dup	XP_016867685.1:p.Arg828AlafsTer?
NM_000238.4:c.2657dup MANE Select	NP_000229.1:p.Arg887AlafsTer?
NM_172057.3:c.1637dup	NP_742054.1:p.Arg547AlafsTer?