Canonical Allele Identifier: CA2685603706

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974646-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974646_150974647insA , CM000669.2:g.150974646_150974647insA	GRCh38
NC_000007.13:g.150671734_150671735insA , CM000669.1:g.150671734_150671735insA	GRCh37
NC_000007.12:g.150302667_150302668insA	NCBI36
NG_008916.1:g.8280_8281insT , LRG_288:g.8280_8281insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+64_307+65insT MANE Select	ENSP00000262186.5:n.307+64_307+65insT
ENST00000262186.9:c.307+64_307+65insT	ENSP00000262186.5:n.307+64_307+65insT
ENST00000430723.4:c.130+64_130+65insT	ENSP00000387657.4:n.130+64_130+65insT
ENST00000532957.5:n.530+64_530+65insT
NM_000238.3:c.307+64_307+65insT , LRG_288t1:c.307+64_307+65insT	NP_000229.1:n.307+64_307+65insT
NM_172056.2:c.307+64_307+65insT , LRG_288t2:c.307+64_307+65insT	NP_742053.1:n.307+64_307+65insT
XM_011516186.1:c.307+64_307+65insT	XP_011514488.1:n.307+64_307+65insT
XM_011516186.3:c.307+64_307+65insT	XP_011514488.1:n.307+64_307+65insT
XM_017012196.1:c.130+64_130+65insT	XP_016867685.1:n.130+64_130+65insT
NM_000238.4:c.307+64_307+65insT MANE Select	NP_000229.1:n.307+64_307+65insT