Canonical Allele Identifier: CA2484788401
Gene: KCNH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210804132C= , CM000663.2:g.210804132C= GRCh38
NC_000001.10:g.210977474C= , CM000663.1:g.210977474C= GRCh37
NC_000001.9:g.209044097C= NCBI36
NG_029777.1:g.334984G=
NG_029777.2:g.334984G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000271751.10:c.1497G= MANE Select ENSP00000271751.4:p.Thr499=
ENST00000367007.5:c.1416G= ENSP00000355974.5:p.Thr472=
ENST00000638357.1:c.830G=
ENST00000638498.1:c.1497G= ENSP00000490983.1:p.Thr499=
ENST00000638960.1:c.1416G= ENSP00000492302.1:p.Thr472=
ENST00000639952.1:c.1416G= ENSP00000492697.1:p.Thr472=
ENST00000640044.1:c.345G= ENSP00000491434.1:p.Thr115=
ENST00000640243.1:c.*2G= ENSP00000492803.1:n.*2G=
ENST00000640522.1:c.*2G= ENSP00000491019.1:n.*2G=
ENST00000640528.1:c.1416G= ENSP00000491725.1:p.Thr472=
ENST00000640566.1:c.311-28588G= ENSP00000491302.1:n.311-28588G=
ENST00000640710.1:c.1416G= ENSP00000492513.1:p.Thr472=
ENST00000271751.8:c.1497G= ENSP00000271751.4:p.Thr499=
ENST00000367007.4:c.1416G= ENSP00000355974.4:p.Thr472=
NM_002238.3:c.1416G= NP_002229.1:p.Thr472=
NM_172362.2:c.1497G= NP_758872.1:p.Thr499=
XM_011509514.1:c.321G= XP_011507816.1:p.Thr107=
XM_017001246.1:c.321G= XP_016856735.1:p.Thr107=
NM_172362.3:c.1497G= MANE Select NP_758872.1:p.Thr499=
NM_002238.4:c.1416G= NP_002229.1:p.Thr472=