Canonical Allele Identifier: CA658797051

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 526925
• ClinVar RCV Id: RCV000631581
• dbSNP Id: rs1554427943
• MyVariant Identifiers: chr7:g.150655527_150655551del (hg19) ; chr7:g.150958439_150958463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958440_150958464del , CM000669.2:g.150958440_150958464del	GRCh38
NC_000007.13:g.150655528_150655552del , CM000669.1:g.150655528_150655552del	GRCh37
NC_000007.12:g.150286461_150286485del	NCBI36
NG_008916.1:g.24464_24488del , LRG_288:g.24464_24488del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1345_1369del
ENST00000262186.10:c.512_536del MANE Select	ENSP00000262186.5:p.Leu171ArgfsTer22
ENST00000262186.9:c.512_536del	ENSP00000262186.5:p.Leu171ArgfsTer22
ENST00000430723.4:c.235-71_235-47del	ENSP00000387657.4:n.235-71_235-47del
ENST00000532957.5:n.735_759del
NM_000238.3:c.512_536del , LRG_288t1:c.512_536del	NP_000229.1:p.Leu171ArgfsTer22
NM_172056.2:c.512_536del , LRG_288t2:c.512_536del	NP_742053.1:p.Leu171ArgfsTer22
XM_011516185.1:c.212_236del	XP_011514487.1:p.Leu71ArgfsTer22
XM_011516186.1:c.512_536del	XP_011514488.1:p.Leu171ArgfsTer22
XM_011516185.2:c.212_236del	XP_011514487.1:p.Leu71ArgfsTer22
XM_011516186.3:c.512_536del	XP_011514488.1:p.Leu171ArgfsTer22
XM_017012195.1:c.362_386del	XP_016867684.1:p.Leu121ArgfsTer22
XM_017012196.1:c.335_359del	XP_016867685.1:p.Leu112ArgfsTer22
NM_000238.4:c.512_536del MANE Select	NP_000229.1:p.Leu171ArgfsTer22