Canonical Allele Identifier: CA344870196

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683357T>C , CM000663.2:g.210683357T>C	GRCh38
NC_000001.10:g.210856699T>C , CM000663.1:g.210856699T>C	GRCh37
NC_000001.9:g.208923322T>C	NCBI36
NG_029777.1:g.455759A>G
NG_029777.2:g.455759A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2894A>G MANE Select	ENSP00000271751.4:p.Gln965Arg
ENST00000367007.5:c.2703+110A>G	ENSP00000355974.5:n.2703+110A>G
ENST00000638357.1:c.2030A>G
ENST00000638498.1:c.2784+110A>G	ENSP00000490983.1:n.2784+110A>G
ENST00000638960.1:c.2813A>G	ENSP00000492302.1:p.Gln938Arg
ENST00000639952.1:c.2813A>G	ENSP00000492697.1:p.Gln938Arg
ENST00000640044.1:c.1742A>G	ENSP00000491434.1:p.Gln581Arg
ENST00000640243.1:c.*1399A>G	ENSP00000492803.1:n.*1399A>G
ENST00000640528.1:c.2813A>G	ENSP00000491725.1:p.Gln938Arg
ENST00000640566.1:c.1289A>G	ENSP00000491302.1:p.Gln430Arg
ENST00000640625.1:c.463+110A>G
ENST00000640710.1:c.2813A>G	ENSP00000492513.1:p.Gln938Arg
ENST00000271751.8:c.2894A>G	ENSP00000271751.4:p.Gln965Arg
ENST00000367007.4:c.2813A>G	ENSP00000355974.4:p.Gln938Arg
NM_002238.3:c.2813A>G	NP_002229.1:p.Gln938Arg
NM_172362.2:c.2894A>G	NP_758872.1:p.Gln965Arg
XM_011509514.1:c.1718A>G	XP_011507816.1:p.Gln573Arg
XM_017001246.1:c.1718A>G	XP_016856735.1:p.Gln573Arg
NM_172362.3:c.2894A>G MANE Select	NP_758872.1:p.Gln965Arg
NM_002238.4:c.2813A>G	NP_002229.1:p.Gln938Arg