Canonical Allele Identifier: CA2685603652

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950152-GCCCCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950157_150950163del , CM000669.2:g.150950157_150950163del	GRCh38
NC_000007.13:g.150647245_150647251del , CM000669.1:g.150647245_150647251del	GRCh37
NC_000007.12:g.150278178_150278184del	NCBI36
NG_008916.1:g.32768_32774del , LRG_288:g.32768_32774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1705_1711del
ENST00000684241.1:n.3231+9_3231+15del
ENST00000262186.10:c.2398+9_2398+15del MANE Select	ENSP00000262186.5:n.2398+9_2398+15del
ENST00000330883.9:c.1378+9_1378+15del	ENSP00000328531.4:n.1378+9_1378+15del
ENST00000262186.9:c.2398+9_2398+15del	ENSP00000262186.5:n.2398+9_2398+15del
ENST00000330883.8:c.1378+9_1378+15del	ENSP00000328531.4:n.1378+9_1378+15del
ENST00000430723.4:c.2059_2065del	ENSP00000387657.4:p.Trp687ArgfsTer18
ENST00000461280.1:n.1694_1700del
ENST00000473610.5:n.2039_2045del
ENST00000532957.5:n.2630_2636del
NM_000238.3:c.2398+9_2398+15del , LRG_288t1:c.2398+9_2398+15del	NP_000229.1:n.2398+9_2398+15del
NM_001204798.1:c.1387_1393del	NP_001191727.1:p.Trp463ArgfsTer18
NM_172056.2:c.2407_2413del , LRG_288t2:c.2407_2413del	NP_742053.1:p.Trp803ArgfsTer18
NM_172057.2:c.1378+9_1378+15del , LRG_288t3:c.1378+9_1378+15del	NP_742054.1:n.1378+9_1378+15del
XM_011516185.1:c.2098+9_2098+15del	XP_011514487.1:n.2098+9_2098+15del
XM_011516186.1:c.2398+9_2398+15del	XP_011514488.1:n.2398+9_2398+15del
XM_011516185.2:c.2098+9_2098+15del	XP_011514487.1:n.2098+9_2098+15del
XM_011516186.3:c.2398+9_2398+15del	XP_011514488.1:n.2398+9_2398+15del
XM_017012195.1:c.2248+9_2248+15del	XP_016867684.1:n.2248+9_2248+15del
XM_017012196.1:c.2221+9_2221+15del	XP_016867685.1:n.2221+9_2221+15del
NM_000238.4:c.2398+9_2398+15del MANE Select	NP_000229.1:n.2398+9_2398+15del
NM_001204798.2:c.1387_1393del	NP_001191727.1:p.Trp463ArgfsTer18
NM_172057.3:c.1378+9_1378+15del	NP_742054.1:n.1378+9_1378+15del