Canonical Allele Identifier: CA835213821

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1070208
• ClinVar RCV Id: RCV001382272 ; RCV001509332
• dbSNP Id: rs1389503709
• MyVariant Identifiers: chr7:g.150671864_150671885del (hg19) ; chr7:g.150974776_150974797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974784_150974805del , CM000669.2:g.150974784_150974805del	GRCh38
NC_000007.13:g.150671872_150671893del , CM000669.1:g.150671872_150671893del	GRCh37
NC_000007.12:g.150302805_150302826del	NCBI36
NG_008916.1:g.8130_8151del , LRG_288:g.8130_8151del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.221_242del MANE Select	ENSP00000262186.5:p.Thr74ArgfsTer?
ENST00000262186.9:c.221_242del	ENSP00000262186.5:p.Thr74ArgfsTer?
ENST00000430723.4:c.44_65del	ENSP00000387657.4:p.Thr15ArgfsTer?
ENST00000532957.5:n.444_465del
NM_000238.3:c.221_242del , LRG_288t1:c.221_242del	NP_000229.1:p.Thr74ArgfsTer?
NM_172056.2:c.221_242del , LRG_288t2:c.221_242del	NP_742053.1:p.Thr74ArgfsTer?
XM_011516186.1:c.221_242del	XP_011514488.1:p.Thr74ArgfsTer?
XM_011516186.3:c.221_242del	XP_011514488.1:p.Thr74ArgfsTer?
XM_017012196.1:c.44_65del	XP_016867685.1:p.Thr15ArgfsTer?
NM_000238.4:c.221_242del MANE Select	NP_000229.1:p.Thr74ArgfsTer?