Canonical Allele Identifier: CA005175

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200642
• ClinVar RCV Id: RCV000181978 ; RCV000631682
• dbSNP Id: rs794728440
• MyVariant Identifiers: chr7:g.150648780del (hg19) ; chr7:g.150951692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951692del , CM000669.2:g.150951692del	GRCh38
NC_000007.13:g.150648780del , CM000669.1:g.150648780del	GRCh37
NC_000007.12:g.150279713del	NCBI36
NG_008916.1:g.31235del , LRG_288:g.31235del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.999del
ENST00000684241.1:n.2534del
ENST00000262186.10:c.1701del MANE Select	ENSP00000262186.5:p.Trp568GlyfsTer26
ENST00000330883.9:c.681del	ENSP00000328531.4:p.Trp228GlyfsTer26
ENST00000262186.9:c.1701del	ENSP00000262186.5:p.Trp568GlyfsTer26
ENST00000330883.8:c.681del	ENSP00000328531.4:p.Trp228GlyfsTer26
ENST00000430723.4:c.1353del	ENSP00000387657.4:p.Trp452GlyfsTer26
ENST00000461280.1:n.988del
ENST00000473610.5:n.1006del
ENST00000532957.5:n.1924del
NM_000238.3:c.1701del , LRG_288t1:c.1701del	NP_000229.1:p.Trp568GlyfsTer26
NM_001204798.1:c.681del	NP_001191727.1:p.Trp228GlyfsTer26
NM_172056.2:c.1701del , LRG_288t2:c.1701del	NP_742053.1:p.Trp568GlyfsTer26
NM_172057.2:c.681del , LRG_288t3:c.681del	NP_742054.1:p.Trp228GlyfsTer26
XM_011516185.1:c.1401del	XP_011514487.1:p.Trp468GlyfsTer26
XM_011516186.1:c.1701del	XP_011514488.1:p.Trp568GlyfsTer26
XM_011516185.2:c.1401del	XP_011514487.1:p.Trp468GlyfsTer26
XM_011516186.3:c.1701del	XP_011514488.1:p.Trp568GlyfsTer26
XM_017012195.1:c.1551del	XP_016867684.1:p.Trp518GlyfsTer26
XM_017012196.1:c.1524del	XP_016867685.1:p.Trp509GlyfsTer26
NM_000238.4:c.1701del MANE Select	NP_000229.1:p.Trp568GlyfsTer26
NM_001204798.2:c.681del	NP_001191727.1:p.Trp228GlyfsTer26
NM_172057.3:c.681del	NP_742054.1:p.Trp228GlyfsTer26