Canonical Allele Identifier: CA2685606134

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957535-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957535_150957536insT , CM000669.2:g.150957535_150957536insT	GRCh38
NC_000007.13:g.150654623_150654624insT , CM000669.1:g.150654623_150654624insT	GRCh37
NC_000007.12:g.150285556_150285557insT	NCBI36
NG_008916.1:g.25391_25392insA , LRG_288:g.25391_25392insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-34_1750-33insA
ENST00000262186.10:c.917-34_917-33insA MANE Select	ENSP00000262186.5:n.917-34_917-33insA
ENST00000262186.9:c.917-34_917-33insA	ENSP00000262186.5:n.917-34_917-33insA
ENST00000430723.4:c.569-34_569-33insA	ENSP00000387657.4:n.569-34_569-33insA
ENST00000532957.5:n.1140-34_1140-33insA
NM_000238.3:c.917-34_917-33insA , LRG_288t1:c.917-34_917-33insA	NP_000229.1:n.917-34_917-33insA
NM_172056.2:c.917-34_917-33insA , LRG_288t2:c.917-34_917-33insA	NP_742053.1:n.917-34_917-33insA
XM_011516185.1:c.617-34_617-33insA	XP_011514487.1:n.617-34_617-33insA
XM_011516186.1:c.917-34_917-33insA	XP_011514488.1:n.917-34_917-33insA
XM_011516185.2:c.617-34_617-33insA	XP_011514487.1:n.617-34_617-33insA
XM_011516186.3:c.917-34_917-33insA	XP_011514488.1:n.917-34_917-33insA
XM_017012195.1:c.767-34_767-33insA	XP_016867684.1:n.767-34_767-33insA
XM_017012196.1:c.740-34_740-33insA	XP_016867685.1:n.740-34_740-33insA
NM_000238.4:c.917-34_917-33insA MANE Select	NP_000229.1:n.917-34_917-33insA