Canonical Allele Identifier: CA658656015

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456936
• ClinVar RCV Id: RCV000552293
• dbSNP Id: rs1554427907
• MyVariant Identifiers: chr7:g.150655494_150655508del (hg19) ; chr7:g.150958406_150958420del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958411_150958425del , CM000669.2:g.150958411_150958425del	GRCh38
NC_000007.13:g.150655499_150655513del , CM000669.1:g.150655499_150655513del	GRCh37
NC_000007.12:g.150286432_150286446del	NCBI36
NG_008916.1:g.24507_24521del , LRG_288:g.24507_24521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1388_1402del
ENST00000262186.10:c.555_569del MANE Select	ENSP00000262186.5:p.Gly186_Ala190del
ENST00000262186.9:c.555_569del	ENSP00000262186.5:p.Gly186_Ala190del
ENST00000430723.4:c.235-28_235-14del	ENSP00000387657.4:n.235-28_235-14del
ENST00000532957.5:n.778_792del
NM_000238.3:c.555_569del , LRG_288t1:c.555_569del	NP_000229.1:p.Gly186_Ala190del
NM_172056.2:c.555_569del , LRG_288t2:c.555_569del	NP_742053.1:p.Gly186_Ala190del
XM_011516185.1:c.255_269del	XP_011514487.1:p.Gly86_Ala90del
XM_011516186.1:c.555_569del	XP_011514488.1:p.Gly186_Ala190del
XM_011516185.2:c.255_269del	XP_011514487.1:p.Gly86_Ala90del
XM_011516186.3:c.555_569del	XP_011514488.1:p.Gly186_Ala190del
XM_017012195.1:c.405_419del	XP_016867684.1:p.Gly136_Ala140del
XM_017012196.1:c.378_392del	XP_016867685.1:p.Gly127_Ala131del
NM_000238.4:c.555_569del MANE Select	NP_000229.1:p.Gly186_Ala190del