Canonical Allele Identifier: CA008674

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200783
• ClinVar RCV Id: RCV000182055 ; RCV000678912 ; RCV001385719
• dbSNP Id: rs794728496
• MyVariant Identifiers: chr7:g.150655385del (hg19) ; chr7:g.150958297del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958299del , CM000669.2:g.150958299del	GRCh38
NC_000007.13:g.150655387del , CM000669.1:g.150655387del	GRCh37
NC_000007.12:g.150286320del	NCBI36
NG_008916.1:g.24630del , LRG_288:g.24630del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1511del
ENST00000262186.10:c.678del MANE Select	ENSP00000262186.5:p.Ala228ArgfsTer?
ENST00000262186.9:c.678del	ENSP00000262186.5:p.Ala228ArgfsTer?
ENST00000430723.4:c.330del	ENSP00000387657.4:p.Ala112ArgfsTer?
ENST00000532957.5:n.901del
NM_000238.3:c.678del , LRG_288t1:c.678del	NP_000229.1:p.Ala228ArgfsTer?
NM_172056.2:c.678del , LRG_288t2:c.678del	NP_742053.1:p.Ala228ArgfsTer?
XM_011516185.1:c.378del	XP_011514487.1:p.Ala128ArgfsTer?
XM_011516186.1:c.678del	XP_011514488.1:p.Ala228ArgfsTer?
XM_011516185.2:c.378del	XP_011514487.1:p.Ala128ArgfsTer?
XM_011516186.3:c.678del	XP_011514488.1:p.Ala228ArgfsTer?
XM_017012195.1:c.528del	XP_016867684.1:p.Ala178ArgfsTer?
XM_017012196.1:c.501del	XP_016867685.1:p.Ala169ArgfsTer?
NM_000238.4:c.678del MANE Select	NP_000229.1:p.Ala228ArgfsTer?