Canonical Allele Identifier: CA2574126147
Gene: KCNH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210804195_210804200del , CM000663.2:g.210804195_210804200del GRCh38
NC_000001.10:g.210977537_210977542del , CM000663.1:g.210977537_210977542del GRCh37
NC_000001.9:g.209044160_209044165del NCBI36
NG_029777.1:g.334917_334922del
NG_029777.2:g.334917_334922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271751.10:c.1463-33_1463-28del MANE Select ENSP00000271751.4:n.1463-33_1463-28del
ENST00000367007.5:c.1382-33_1382-28del ENSP00000355974.5:n.1382-33_1382-28del
ENST00000638357.1:c.796-33_796-28del
ENST00000638498.1:c.1463-33_1463-28del ENSP00000490983.1:n.1463-33_1463-28del
ENST00000638960.1:c.1382-33_1382-28del ENSP00000492302.1:n.1382-33_1382-28del
ENST00000639952.1:c.1382-33_1382-28del ENSP00000492697.1:n.1382-33_1382-28del
ENST00000640044.1:c.311-33_311-28del ENSP00000491434.1:n.311-33_311-28del
ENST00000640243.1:c.952-33_952-28del ENSP00000492803.1:n.952-33_952-28del
ENST00000640522.1:c.1033-33_1033-28del ENSP00000491019.1:n.1033-33_1033-28del
ENST00000640528.1:c.1382-33_1382-28del ENSP00000491725.1:n.1382-33_1382-28del
ENST00000640566.1:c.311-28655_311-28650del ENSP00000491302.1:n.311-28655_311-28650del
ENST00000640710.1:c.1382-33_1382-28del ENSP00000492513.1:n.1382-33_1382-28del
ENST00000271751.8:c.1463-33_1463-28del ENSP00000271751.4:n.1463-33_1463-28del
ENST00000367007.4:c.1382-33_1382-28del ENSP00000355974.4:n.1382-33_1382-28del
NM_002238.3:c.1382-33_1382-28del NP_002229.1:n.1382-33_1382-28del
NM_172362.2:c.1463-33_1463-28del NP_758872.1:n.1463-33_1463-28del
XM_011509514.1:c.287-33_287-28del XP_011507816.1:n.287-33_287-28del
XM_017001246.1:c.287-33_287-28del XP_016856735.1:n.287-33_287-28del
NM_172362.3:c.1463-33_1463-28del MANE Select NP_758872.1:n.1463-33_1463-28del
NM_002238.4:c.1382-33_1382-28del NP_002229.1:n.1382-33_1382-28del