Canonical Allele Identifier: CA169088253

Gene: KCNH2

Linked Data

• dbSNP Id: rs775659981
• gnomAD v3: 7-150970061-TTC-T
• gnomAD v4: 7-150970061-TTC-T
• MyVariant Identifiers: chr7:g.150667150_150667151del (hg19) ; chr7:g.150970062_150970063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970063_150970064del , CM000669.2:g.150970063_150970064del	GRCh38
NC_000007.13:g.150667151_150667152del , CM000669.1:g.150667151_150667152del	GRCh37
NC_000007.12:g.150298084_150298085del	NCBI36
NG_008916.1:g.12864_12865del , LRG_288:g.12864_12865del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+4648_307+4649del MANE Select	ENSP00000262186.5:n.307+4648_307+4649del
ENST00000262186.9:c.307+4648_307+4649del	ENSP00000262186.5:n.307+4648_307+4649del
ENST00000430723.4:c.130+4648_130+4649del	ENSP00000387657.4:n.130+4648_130+4649del
ENST00000532957.5:n.530+4648_530+4649del
NM_000238.3:c.307+4648_307+4649del , LRG_288t1:c.307+4648_307+4649del	NP_000229.1:n.307+4648_307+4649del
NM_172056.2:c.307+4648_307+4649del , LRG_288t2:c.307+4648_307+4649del	NP_742053.1:n.307+4648_307+4649del
XM_011516185.1:c.7+4307_7+4308del	XP_011514487.1:n.7+4307_7+4308del
XM_011516186.1:c.307+4648_307+4649del	XP_011514488.1:n.307+4648_307+4649del
XM_011516185.2:c.7+4307_7+4308del	XP_011514487.1:n.7+4307_7+4308del
XM_011516186.3:c.307+4648_307+4649del	XP_011514488.1:n.307+4648_307+4649del
XM_017012196.1:c.130+4648_130+4649del	XP_016867685.1:n.130+4648_130+4649del
NM_000238.4:c.307+4648_307+4649del MANE Select	NP_000229.1:n.307+4648_307+4649del