Canonical Allele Identifier: CA2685609224

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958507-GGGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958515_150958519del , CM000669.2:g.150958515_150958519del	GRCh38
NC_000007.13:g.150655603_150655607del , CM000669.1:g.150655603_150655607del	GRCh37
NC_000007.12:g.150286536_150286540del	NCBI36
NG_008916.1:g.24415_24419del , LRG_288:g.24415_24419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-10_1306-6del
ENST00000262186.10:c.473-10_473-6del MANE Select	ENSP00000262186.5:n.473-10_473-6del
ENST00000262186.9:c.473-10_473-6del	ENSP00000262186.5:n.473-10_473-6del
ENST00000430723.4:c.235-120_235-116del	ENSP00000387657.4:n.235-120_235-116del
ENST00000532957.5:n.696-10_696-6del
NM_000238.3:c.473-10_473-6del , LRG_288t1:c.473-10_473-6del	NP_000229.1:n.473-10_473-6del
NM_172056.2:c.473-10_473-6del , LRG_288t2:c.473-10_473-6del	NP_742053.1:n.473-10_473-6del
XM_011516185.1:c.173-10_173-6del	XP_011514487.1:n.173-10_173-6del
XM_011516186.1:c.473-10_473-6del	XP_011514488.1:n.473-10_473-6del
XM_011516185.2:c.173-10_173-6del	XP_011514487.1:n.173-10_173-6del
XM_011516186.3:c.473-10_473-6del	XP_011514488.1:n.473-10_473-6del
XM_017012195.1:c.323-10_323-6del	XP_016867684.1:n.323-10_323-6del
XM_017012196.1:c.296-10_296-6del	XP_016867685.1:n.296-10_296-6del
NM_000238.4:c.473-10_473-6del MANE Select	NP_000229.1:n.473-10_473-6del