Canonical Allele Identifier: CA2739278349

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2918473
• ClinVar RCV Id: RCV003649120

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958306_150958309del , CM000669.2:g.150958306_150958309del	GRCh38
NC_000007.13:g.150655394_150655397del , CM000669.1:g.150655394_150655397del	GRCh37
NC_000007.12:g.150286327_150286330del	NCBI36
NG_008916.1:g.24620_24623del , LRG_288:g.24620_24623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1501_1504del
ENST00000262186.10:c.668_671del MANE Select	ENSP00000262186.5:p.Ala223GlyfsTer?
ENST00000262186.9:c.668_671del	ENSP00000262186.5:p.Ala223GlyfsTer?
ENST00000430723.4:c.320_323del	ENSP00000387657.4:p.Ala107GlyfsTer?
ENST00000532957.5:n.891_894del
NM_000238.3:c.668_671del , LRG_288t1:c.668_671del	NP_000229.1:p.Ala223GlyfsTer?
NM_172056.2:c.668_671del , LRG_288t2:c.668_671del	NP_742053.1:p.Ala223GlyfsTer?
XM_011516185.1:c.368_371del	XP_011514487.1:p.Ala123GlyfsTer?
XM_011516186.1:c.668_671del	XP_011514488.1:p.Ala223GlyfsTer?
XM_011516185.2:c.368_371del	XP_011514487.1:p.Ala123GlyfsTer?
XM_011516186.3:c.668_671del	XP_011514488.1:p.Ala223GlyfsTer?
XM_017012195.1:c.518_521del	XP_016867684.1:p.Ala173GlyfsTer?
XM_017012196.1:c.491_494del	XP_016867685.1:p.Ala164GlyfsTer?
NM_000238.4:c.668_671del MANE Select	NP_000229.1:p.Ala223GlyfsTer?