Canonical Allele Identifier: CA645372845

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 431036
• ClinVar RCV Id: RCV000495991
• dbSNP Id: rs1131692327
• MyVariant Identifiers: chr7:g.150644720_150644724del (hg19) ; chr7:g.150947632_150947636del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947635_150947639del , CM000669.2:g.150947635_150947639del	GRCh38
NC_000007.13:g.150644723_150644727del , CM000669.1:g.150644723_150644727del	GRCh37
NC_000007.12:g.150275656_150275660del	NCBI36
NG_008916.1:g.35291_35295del , LRG_288:g.35291_35295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3768_3772del
ENST00000262186.10:c.2935_2939del MANE Select	ENSP00000262186.5:p.Lys979GlnfsTer?
ENST00000330883.9:c.1915_1919del	ENSP00000328531.4:p.Lys639GlnfsTer?
ENST00000262186.9:c.2935_2939del	ENSP00000262186.5:p.Lys979GlnfsTer?
ENST00000330883.8:c.1915_1919del	ENSP00000328531.4:p.Lys639GlnfsTer?
NM_000238.3:c.2935_2939del , LRG_288t1:c.2935_2939del	NP_000229.1:p.Lys979GlnfsTer?
NM_172057.2:c.1915_1919del , LRG_288t3:c.1915_1919del	NP_742054.1:p.Lys639GlnfsTer?
XM_011516185.1:c.2635_2639del	XP_011514487.1:p.Lys879GlnfsTer?
XM_011516186.1:c.*15_*19del	XP_011514488.1:n.*15_*19del
XM_011516185.2:c.2635_2639del	XP_011514487.1:p.Lys879GlnfsTer?
XM_011516186.3:c.*15_*19del	XP_011514488.1:n.*15_*19del
XM_017012195.1:c.2785_2789del	XP_016867684.1:p.Lys929GlnfsTer?
XM_017012196.1:c.2758_2762del	XP_016867685.1:p.Lys920GlnfsTer?
NM_000238.4:c.2935_2939del MANE Select	NP_000229.1:p.Lys979GlnfsTer?
NM_172057.3:c.1915_1919del	NP_742054.1:p.Lys639GlnfsTer?