Canonical Allele Identifier: CA2484788426
Gene: KCNH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210804199_210804200delinsTA , CM000663.2:g.210804199_210804200delinsTA GRCh38
NC_000001.10:g.210977541_210977542delinsTA , CM000663.1:g.210977541_210977542delinsTA GRCh37
NC_000001.9:g.209044164_209044165delinsTA NCBI36
NG_029777.1:g.334916_334917delinsTA
NG_029777.2:g.334916_334917delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000271751.10:c.1463-34_1463-33delinsTA MANE Select ENSP00000271751.4:n.1463-34_1463-33delinsTA
ENST00000367007.5:c.1382-34_1382-33delinsTA ENSP00000355974.5:n.1382-34_1382-33delinsTA
ENST00000638357.1:c.796-34_796-33delinsTA
ENST00000638498.1:c.1463-34_1463-33delinsTA ENSP00000490983.1:n.1463-34_1463-33delinsTA
ENST00000638960.1:c.1382-34_1382-33delinsTA ENSP00000492302.1:n.1382-34_1382-33delinsTA
ENST00000639952.1:c.1382-34_1382-33delinsTA ENSP00000492697.1:n.1382-34_1382-33delinsTA
ENST00000640044.1:c.311-34_311-33delinsTA ENSP00000491434.1:n.311-34_311-33delinsTA
ENST00000640243.1:c.952-34_952-33delinsTA ENSP00000492803.1:n.952-34_952-33delinsTA
ENST00000640522.1:c.1033-34_1033-33delinsTA ENSP00000491019.1:n.1033-34_1033-33delinsTA
ENST00000640528.1:c.1382-34_1382-33delinsTA ENSP00000491725.1:n.1382-34_1382-33delinsTA
ENST00000640566.1:c.311-28656_311-28655delinsTA ENSP00000491302.1:n.311-28656_311-28655delinsTA
ENST00000640710.1:c.1382-34_1382-33delinsTA ENSP00000492513.1:n.1382-34_1382-33delinsTA
ENST00000271751.8:c.1463-34_1463-33delinsTA ENSP00000271751.4:n.1463-34_1463-33delinsTA
ENST00000367007.4:c.1382-34_1382-33delinsTA ENSP00000355974.4:n.1382-34_1382-33delinsTA
NM_002238.3:c.1382-34_1382-33delinsTA NP_002229.1:n.1382-34_1382-33delinsTA
NM_172362.2:c.1463-34_1463-33delinsTA NP_758872.1:n.1463-34_1463-33delinsTA
XM_011509514.1:c.287-34_287-33delinsTA XP_011507816.1:n.287-34_287-33delinsTA
XM_017001246.1:c.287-34_287-33delinsTA XP_016856735.1:n.287-34_287-33delinsTA
NM_172362.3:c.1463-34_1463-33delinsTA MANE Select NP_758872.1:n.1463-34_1463-33delinsTA
NM_002238.4:c.1382-34_1382-33delinsTA NP_002229.1:n.1382-34_1382-33delinsTA