Canonical Allele Identifier: CA1752461422

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801924604
• gnomAD v4: 7-150974619-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974624dup , CM000669.2:g.150974624dup	GRCh38
NC_000007.13:g.150671712dup , CM000669.1:g.150671712dup	GRCh37
NC_000007.12:g.150302645dup	NCBI36
NG_008916.1:g.8307dup , LRG_288:g.8307dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+91dup MANE Select	ENSP00000262186.5:n.307+91dup
ENST00000262186.9:c.307+91dup	ENSP00000262186.5:n.307+91dup
ENST00000430723.4:c.130+91dup	ENSP00000387657.4:n.130+91dup
ENST00000532957.5:n.530+91dup
NM_000238.3:c.307+91dup , LRG_288t1:c.307+91dup	NP_000229.1:n.307+91dup
NM_172056.2:c.307+91dup , LRG_288t2:c.307+91dup	NP_742053.1:n.307+91dup
XM_011516186.1:c.307+91dup	XP_011514488.1:n.307+91dup
XM_011516186.3:c.307+91dup	XP_011514488.1:n.307+91dup
XM_017012196.1:c.130+91dup	XP_016867685.1:n.130+91dup
NM_000238.4:c.307+91dup MANE Select	NP_000229.1:n.307+91dup