Canonical Allele Identifier: CA2685600606

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948630-AAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948633_150948635del , CM000669.2:g.150948633_150948635del	GRCh38
NC_000007.13:g.150645721_150645723del , CM000669.1:g.150645721_150645723del	GRCh37
NC_000007.12:g.150276654_150276656del	NCBI36
NG_008916.1:g.34294_34296del , LRG_288:g.34294_34296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-90_3426-88del
ENST00000262186.10:c.2593-90_2593-88del MANE Select	ENSP00000262186.5:n.2593-90_2593-88del
ENST00000330883.9:c.1573-90_1573-88del	ENSP00000328531.4:n.1573-90_1573-88del
ENST00000262186.9:c.2593-90_2593-88del	ENSP00000262186.5:n.2593-90_2593-88del
ENST00000330883.8:c.1573-90_1573-88del	ENSP00000328531.4:n.1573-90_1573-88del
NM_000238.3:c.2593-90_2593-88del , LRG_288t1:c.2593-90_2593-88del	NP_000229.1:n.2593-90_2593-88del
NM_172057.2:c.1573-90_1573-88del , LRG_288t3:c.1573-90_1573-88del	NP_742054.1:n.1573-90_1573-88del
XM_011516185.1:c.2293-90_2293-88del	XP_011514487.1:n.2293-90_2293-88del
XM_011516186.1:c.2593-90_2593-88del	XP_011514488.1:n.2593-90_2593-88del
XM_011516185.2:c.2293-90_2293-88del	XP_011514487.1:n.2293-90_2293-88del
XM_011516186.3:c.2593-90_2593-88del	XP_011514488.1:n.2593-90_2593-88del
XM_017012195.1:c.2443-90_2443-88del	XP_016867684.1:n.2443-90_2443-88del
XM_017012196.1:c.2416-90_2416-88del	XP_016867685.1:n.2416-90_2416-88del
NM_000238.4:c.2593-90_2593-88del MANE Select	NP_000229.1:n.2593-90_2593-88del
NM_172057.3:c.1573-90_1573-88del	NP_742054.1:n.1573-90_1573-88del