Canonical Allele Identifier: CA1108706018
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1801149039

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951352_150951353insA , CM000669.2:g.150951352_150951353insA GRCh38
NC_000007.13:g.150648440_150648441insA , CM000669.1:g.150648440_150648441insA GRCh37
NC_000007.12:g.150279373_150279374insA NCBI36
NG_008916.1:g.31574_31575insT , LRG_288:g.31574_31575insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1243+95_1243+96insT
ENST00000683359.1:n.69+95_69+96insT
ENST00000684241.1:n.2778+95_2778+96insT
ENST00000262186.10:c.1945+95_1945+96insT MANE Select ENSP00000262186.5:n.1945+95_1945+96insT
ENST00000330883.9:c.925+95_925+96insT ENSP00000328531.4:n.925+95_925+96insT
ENST00000262186.9:c.1945+95_1945+96insT ENSP00000262186.5:n.1945+95_1945+96insT
ENST00000330883.8:c.925+95_925+96insT ENSP00000328531.4:n.925+95_925+96insT
ENST00000430723.4:c.1597+95_1597+96insT ENSP00000387657.4:n.1597+95_1597+96insT
ENST00000461280.1:n.1232+95_1232+96insT
ENST00000473610.5:n.1345_1346insT
ENST00000532957.5:n.2168+95_2168+96insT
NM_000238.3:c.1945+95_1945+96insT , LRG_288t1:c.1945+95_1945+96insT NP_000229.1:n.1945+95_1945+96insT
NM_001204798.1:c.925+95_925+96insT NP_001191727.1:n.925+95_925+96insT
NM_172056.2:c.1945+95_1945+96insT , LRG_288t2:c.1945+95_1945+96insT NP_742053.1:n.1945+95_1945+96insT
NM_172057.2:c.925+95_925+96insT , LRG_288t3:c.925+95_925+96insT NP_742054.1:n.925+95_925+96insT
XM_011516185.1:c.1645+95_1645+96insT XP_011514487.1:n.1645+95_1645+96insT
XM_011516186.1:c.1945+95_1945+96insT XP_011514488.1:n.1945+95_1945+96insT
XM_011516185.2:c.1645+95_1645+96insT XP_011514487.1:n.1645+95_1645+96insT
XM_011516186.3:c.1945+95_1945+96insT XP_011514488.1:n.1945+95_1945+96insT
XM_017012195.1:c.1795+95_1795+96insT XP_016867684.1:n.1795+95_1795+96insT
XM_017012196.1:c.1768+95_1768+96insT XP_016867685.1:n.1768+95_1768+96insT
NM_000238.4:c.1945+95_1945+96insT MANE Select NP_000229.1:n.1945+95_1945+96insT
NM_001204798.2:c.925+95_925+96insT NP_001191727.1:n.925+95_925+96insT
NM_172057.3:c.925+95_925+96insT NP_742054.1:n.925+95_925+96insT