Canonical Allele Identifier: CA2484836152
Gene: KCNH1 HGNC NCBI

Linked Data

dbSNP Id: rs1687423203

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210919875_210919889del , CM000663.2:g.210919875_210919889del GRCh38
NC_000001.10:g.211093217_211093231del , CM000663.1:g.211093217_211093231del GRCh37
NC_000001.9:g.209159840_209159854del NCBI36
NG_029777.1:g.219228_219242del
NG_029777.2:g.219228_219242del

Transcript Alleles

HGVS Amino-acid change
ENST00000271751.10:c.1214_1228del MANE Select ENSP00000271751.4:p.Ile405_Asp409del
ENST00000367007.5:c.1133_1147del ENSP00000355974.5:p.Ile378_Asp382del
ENST00000638357.1:c.547_561del
ENST00000638498.1:c.1214_1228del ENSP00000490983.1:p.Ile405_Asp409del
ENST00000638960.1:c.1133_1147del ENSP00000492302.1:p.Ile378_Asp382del
ENST00000638983.1:c.952-58694_952-58680del ENSP00000492641.1:n.952-58694_952-58680de...
ENST00000639385.1:n.582_596del
ENST00000639602.1:c.1004_1018del ENSP00000492303.1:p.Ile335_Asp339del
ENST00000639754.1:n.1417_1431del
ENST00000639952.1:c.1133_1147del ENSP00000492697.1:p.Ile378_Asp382del
ENST00000640044.1:c.311-115722_311-115708del ENSP00000491434.1:n.311-115722_311-115708...
ENST00000640243.1:c.951+98976_951+98990del ENSP00000492803.1:n.951+98976_951+98990de...
ENST00000640522.1:c.1032+98895_1032+98909del ENSP00000491019.1:n.1032+98895_1032+98909...
ENST00000640528.1:c.1133_1147del ENSP00000491725.1:p.Ile378_Asp382del
ENST00000640566.1:c.311-144344_311-144330del ENSP00000491302.1:n.311-144344_311-144330...
ENST00000640710.1:c.1133_1147del ENSP00000492513.1:p.Ile378_Asp382del
ENST00000640890.1:n.1235_1249del
ENST00000271751.8:c.1214_1228del ENSP00000271751.4:p.Ile405_Asp409del
ENST00000367007.4:c.1133_1147del ENSP00000355974.4:p.Ile378_Asp382del
NM_002238.3:c.1133_1147del NP_002229.1:p.Ile378_Asp382del
NM_172362.2:c.1214_1228del NP_758872.1:p.Ile405_Asp409del
XM_011509514.1:c.38_52del XP_011507816.1:p.Ile13_Asp17del
XM_017001246.1:c.38_52del XP_016856735.1:p.Ile13_Asp17del
NM_172362.3:c.1214_1228del MANE Select NP_758872.1:p.Ile405_Asp409del
NM_002238.4:c.1133_1147del NP_002229.1:p.Ile378_Asp382del