Canonical Allele Identifier: CA344873773
Gene: KCNH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210919942C>G , CM000663.2:g.210919942C>G GRCh38
NC_000001.10:g.211093284C>G , CM000663.1:g.211093284C>G GRCh37
NC_000001.9:g.209159907C>G NCBI36
NG_029777.1:g.219174G>C
NG_029777.2:g.219174G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271751.10:c.1160G>C MANE Select ENSP00000271751.4:p.Gly387Ala
ENST00000367007.5:c.1079G>C ENSP00000355974.5:p.Gly360Ala
ENST00000638357.1:c.493G>C
ENST00000638498.1:c.1160G>C ENSP00000490983.1:p.Gly387Ala
ENST00000638960.1:c.1079G>C ENSP00000492302.1:p.Gly360Ala
ENST00000638983.1:c.952-58748G>C ENSP00000492641.1:n.952-58748G>C
ENST00000639385.1:n.528G>C
ENST00000639602.1:c.950G>C ENSP00000492303.1:p.Gly317Ala
ENST00000639754.1:n.1363G>C
ENST00000639952.1:c.1079G>C ENSP00000492697.1:p.Gly360Ala
ENST00000640044.1:c.311-115776G>C ENSP00000491434.1:n.311-115776G>C
ENST00000640243.1:c.951+98922G>C ENSP00000492803.1:n.951+98922G>C
ENST00000640522.1:c.1032+98841G>C ENSP00000491019.1:n.1032+98841G>C
ENST00000640528.1:c.1079G>C ENSP00000491725.1:p.Gly360Ala
ENST00000640566.1:c.311-144398G>C ENSP00000491302.1:n.311-144398G>C
ENST00000640710.1:c.1079G>C ENSP00000492513.1:p.Gly360Ala
ENST00000640890.1:n.1181G>C
ENST00000271751.8:c.1160G>C ENSP00000271751.4:p.Gly387Ala
ENST00000367007.4:c.1079G>C ENSP00000355974.4:p.Gly360Ala
NM_002238.3:c.1079G>C NP_002229.1:p.Gly360Ala
NM_172362.2:c.1160G>C NP_758872.1:p.Gly387Ala
XM_011509514.1:c.-17G>C XP_011507816.1:n.-17G>C
XM_017001246.1:c.-17G>C XP_016856735.1:n.-17G>C
NM_172362.3:c.1160G>C MANE Select NP_758872.1:p.Gly387Ala
NM_002238.4:c.1079G>C NP_002229.1:p.Gly360Ala