Canonical Allele Identifier: CA2685603668

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974641-TGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974648_150974680del , CM000669.2:g.150974648_150974680del	GRCh38
NC_000007.13:g.150671736_150671768del , CM000669.1:g.150671736_150671768del	GRCh37
NC_000007.12:g.150302669_150302701del	NCBI36
NG_008916.1:g.8253_8285del , LRG_288:g.8253_8285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+37_307+69del MANE Select	ENSP00000262186.5:n.307+37_307+69del
ENST00000262186.9:c.307+37_307+69del	ENSP00000262186.5:n.307+37_307+69del
ENST00000430723.4:c.130+37_130+69del	ENSP00000387657.4:n.130+37_130+69del
ENST00000532957.5:n.530+37_530+69del
NM_000238.3:c.307+37_307+69del , LRG_288t1:c.307+37_307+69del	NP_000229.1:n.307+37_307+69del
NM_172056.2:c.307+37_307+69del , LRG_288t2:c.307+37_307+69del	NP_742053.1:n.307+37_307+69del
XM_011516186.1:c.307+37_307+69del	XP_011514488.1:n.307+37_307+69del
XM_011516186.3:c.307+37_307+69del	XP_011514488.1:n.307+37_307+69del
XM_017012196.1:c.130+37_130+69del	XP_016867685.1:n.130+37_130+69del
NM_000238.4:c.307+37_307+69del MANE Select	NP_000229.1:n.307+37_307+69del