Canonical Allele Identifier: CA346385

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 180381
• ClinVar RCV Id: RCV000157260
• dbSNP Id: rs730880374
• MyVariant Identifiers: chr7:g.150655221dupC (hg19) ; chr7:g.150655220_150655221insC (hg19) ; chr7:g.150958133dupC (hg38) ; chr7:g.150958132_150958133insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958133dup , CM000669.2:g.150958133dup	GRCh38
NC_000007.13:g.150655221dup , CM000669.1:g.150655221dup	GRCh37
NC_000007.12:g.150286154dup	NCBI36
NG_008916.1:g.24794dup , LRG_288:g.24794dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1675dup
ENST00000262186.10:c.842dup MANE Select	ENSP00000262186.5:p.Ala282ArgfsTer?
ENST00000262186.9:c.842dup	ENSP00000262186.5:p.Ala282ArgfsTer?
ENST00000430723.4:c.494dup	ENSP00000387657.4:p.Ala166ArgfsTer?
ENST00000532957.5:n.1065dup
NM_000238.3:c.842dup , LRG_288t1:c.842dup	NP_000229.1:p.Ala282ArgfsTer?
NM_172056.2:c.842dup , LRG_288t2:c.842dup	NP_742053.1:p.Ala282ArgfsTer?
XM_011516185.1:c.542dup	XP_011514487.1:p.Ala182ArgfsTer?
XM_011516186.1:c.842dup	XP_011514488.1:p.Ala282ArgfsTer?
XM_011516185.2:c.542dup	XP_011514487.1:p.Ala182ArgfsTer?
XM_011516186.3:c.842dup	XP_011514488.1:p.Ala282ArgfsTer?
XM_017012195.1:c.692dup	XP_016867684.1:p.Ala232ArgfsTer?
XM_017012196.1:c.665dup	XP_016867685.1:p.Ala223ArgfsTer?
NM_000238.4:c.842dup MANE Select	NP_000229.1:p.Ala282ArgfsTer?