Canonical Allele Identifier: CA030903

Gene: KCNH2

Linked Data

• dbSNP Id: rs755822548
• ExAC: 7:150647975 CTGCCACCCACT / C
• gnomAD v2: 7-150647975-CTGCCACCCACT-C
• MyVariant Identifiers: chr7:g.150647976_150647986del (hg19) ; chr7:g.150950888_150950898del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950888_150950898del , CM000669.2:g.150950888_150950898del	GRCh38
NC_000007.13:g.150647976_150647986del , CM000669.1:g.150647976_150647986del	GRCh37
NC_000007.12:g.150278909_150278919del	NCBI36
NG_008916.1:g.32029_32039del , LRG_288:g.32029_32039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+23_1443+33del
ENST00000683359.1:n.292_302del
ENST00000684241.1:n.2978+23_2978+33del
ENST00000262186.10:c.2145+23_2145+33del MANE Select	ENSP00000262186.5:n.2145+23_2145+33del
ENST00000330883.9:c.1125+23_1125+33del	ENSP00000328531.4:n.1125+23_1125+33del
ENST00000262186.9:c.2145+23_2145+33del	ENSP00000262186.5:n.2145+23_2145+33del
ENST00000330883.8:c.1125+23_1125+33del	ENSP00000328531.4:n.1125+23_1125+33del
ENST00000430723.4:c.1797+23_1797+33del	ENSP00000387657.4:n.1797+23_1797+33del
ENST00000461280.1:n.1432+23_1432+33del
ENST00000473610.5:n.1777+23_1777+33del
ENST00000532957.5:n.2368+23_2368+33del
NM_000238.3:c.2145+23_2145+33del , LRG_288t1:c.2145+23_2145+33del	NP_000229.1:n.2145+23_2145+33del
NM_001204798.1:c.1125+23_1125+33del	NP_001191727.1:n.1125+23_1125+33del
NM_172056.2:c.2145+23_2145+33del , LRG_288t2:c.2145+23_2145+33del	NP_742053.1:n.2145+23_2145+33del
NM_172057.2:c.1125+23_1125+33del , LRG_288t3:c.1125+23_1125+33del	NP_742054.1:n.1125+23_1125+33del
XM_011516185.1:c.1845+23_1845+33del	XP_011514487.1:n.1845+23_1845+33del
XM_011516186.1:c.2145+23_2145+33del	XP_011514488.1:n.2145+23_2145+33del
XM_011516185.2:c.1845+23_1845+33del	XP_011514487.1:n.1845+23_1845+33del
XM_011516186.3:c.2145+23_2145+33del	XP_011514488.1:n.2145+23_2145+33del
XM_017012195.1:c.1995+23_1995+33del	XP_016867684.1:n.1995+23_1995+33del
XM_017012196.1:c.1968+23_1968+33del	XP_016867685.1:n.1968+23_1968+33del
NM_000238.4:c.2145+23_2145+33del MANE Select	NP_000229.1:n.2145+23_2145+33del
NM_001204798.2:c.1125+23_1125+33del	NP_001191727.1:n.1125+23_1125+33del
NM_172057.3:c.1125+23_1125+33del	NP_742054.1:n.1125+23_1125+33del