Canonical Allele Identifier: CA1139660330

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 928528
• ClinVar RCV Id: RCV001841180 ; RCV003293979
• dbSNP Id: rs1800937691

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947373_150947380delinsGCC , CM000669.2:g.150947373_150947380delinsGCC	GRCh38
NC_000007.13:g.150644461_150644468delinsGCC , CM000669.1:g.150644461_150644468delinsGCC	GRCh37
NC_000007.12:g.150275394_150275401delinsGCC	NCBI36
NG_008916.1:g.35547_35554delinsGGC , LRG_288:g.35547_35554delinsGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3933_3940delinsGGC
ENST00000262186.10:c.3100_3107delinsGGC MANE Select	ENSP00000262186.5:p.Pro1034GlyfsTer?
ENST00000330883.9:c.2080_2087delinsGGC	ENSP00000328531.4:p.Pro694GlyfsTer?
ENST00000262186.9:c.3100_3107delinsGGC	ENSP00000262186.5:p.Pro1034GlyfsTer?
ENST00000330883.8:c.2080_2087delinsGGC	ENSP00000328531.4:p.Pro694GlyfsTer?
NM_000238.3:c.3100_3107delinsGGC , LRG_288t1:c.3100_3107delinsGGC	NP_000229.1:p.Pro1034GlyfsTer?
NM_172057.2:c.2080_2087delinsGGC , LRG_288t3:c.2080_2087delinsGGC	NP_742054.1:p.Pro694GlyfsTer?
XM_011516185.1:c.2800_2807delinsGGC	XP_011514487.1:p.Pro934GlyfsTer?
XM_011516185.2:c.2800_2807delinsGGC	XP_011514487.1:p.Pro934GlyfsTer?
XM_017012195.1:c.2950_2957delinsGGC	XP_016867684.1:p.Pro984GlyfsTer?
XM_017012196.1:c.2923_2930delinsGGC	XP_016867685.1:p.Pro975GlyfsTer?
NM_000238.4:c.3100_3107delinsGGC MANE Select	NP_000229.1:p.Pro1034GlyfsTer?
NM_172057.3:c.2080_2087delinsGGC	NP_742054.1:p.Pro694GlyfsTer?